Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128617952T>CCA5265475SPTAN1c.5515-35T>C (n.5515-35T>C)
c.5479-35T>C (n.5479-35T>C)
c.4942-35T>C (n.4942-35T>C)
c.3102-35T>C
c.1089-35T>C
n.707-35T>C
c.5404-35T>C (n.5404-35T>C)
c.5464-35T>C (n.5464-35T>C)
c.5419-35T>C (n.5419-35T>C)
c.5500-35T>C (n.5500-35T>C)
c.5455-35T>C (n.5455-35T>C)
c.5440-35T>C (n.5440-35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617952T=CA1880364297SPTAN1c.5515-35T= (n.5515-35T=)
c.5479-35T= (n.5479-35T=)
c.4942-35T= (n.4942-35T=)
c.3102-35T=
c.1089-35T=
n.707-35T=
c.5404-35T= (n.5404-35T=)
c.5464-35T= (n.5464-35T=)
c.5419-35T= (n.5419-35T=)
c.5500-35T= (n.5500-35T=)
c.5455-35T= (n.5455-35T=)
c.5440-35T= (n.5440-35T=)
9g.128617957_128617967delCA2691935621SPTAN1c.5515-30_5515-20del (n.5515-30_5515-20del)
c.5479-30_5479-20del (n.5479-30_5479-20del)
c.4942-30_4942-20del (n.4942-30_4942-20del)
c.3102-30_3102-20del
c.1089-30_1089-20del
n.707-30_707-20del
c.5404-30_5404-20del (n.5404-30_5404-20del)
c.5464-30_5464-20del (n.5464-30_5464-20del)
c.5419-30_5419-20del (n.5419-30_5419-20del)
c.5500-30_5500-20del (n.5500-30_5500-20del)
c.5455-30_5455-20del (n.5455-30_5455-20del)
c.5440-30_5440-20del (n.5440-30_5440-20del)
 gnomAD v4
9g.128617954C=CA1880364298SPTAN1c.5515-33C= (n.5515-33C=)
c.5479-33C= (n.5479-33C=)
c.4942-33C= (n.4942-33C=)
c.3102-33C=
c.1089-33C=
n.707-33C=
c.5404-33C= (n.5404-33C=)
c.5464-33C= (n.5464-33C=)
c.5419-33C= (n.5419-33C=)
c.5500-33C= (n.5500-33C=)
c.5455-33C= (n.5455-33C=)
c.5440-33C= (n.5440-33C=)
9g.128617954C>TCA5265477SPTAN1c.5515-33C>T (n.5515-33C>T)
c.5479-33C>T (n.5479-33C>T)
c.4942-33C>T (n.4942-33C>T)
c.3102-33C>T
c.1089-33C>T
n.707-33C>T
c.5404-33C>T (n.5404-33C>T)
c.5464-33C>T (n.5464-33C>T)
c.5419-33C>T (n.5419-33C>T)
c.5500-33C>T (n.5500-33C>T)
c.5455-33C>T (n.5455-33C>T)
c.5440-33C>T (n.5440-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617955C>GCA2691935622SPTAN1c.5515-32C>G (n.5515-32C>G)
c.5479-32C>G (n.5479-32C>G)
c.4942-32C>G (n.4942-32C>G)
c.3102-32C>G
c.1089-32C>G
n.707-32C>G
c.5404-32C>G (n.5404-32C>G)
c.5464-32C>G (n.5464-32C>G)
c.5419-32C>G (n.5419-32C>G)
c.5500-32C>G (n.5500-32C>G)
c.5455-32C>G (n.5455-32C>G)
c.5440-32C>G (n.5440-32C>G)
 gnomAD v4
9g.128617955_128617959dupCA5265476SPTAN1c.5515-32_5515-28dup (n.5515-32_5515-28dup)
c.5479-32_5479-28dup (n.5479-32_5479-28dup)
c.4942-32_4942-28dup (n.4942-32_4942-28dup)
c.3102-32_3102-28dup
c.1089-32_1089-28dup
n.707-32_707-28dup
c.5404-32_5404-28dup (n.5404-32_5404-28dup)
c.5464-32_5464-28dup (n.5464-32_5464-28dup)
c.5419-32_5419-28dup (n.5419-32_5419-28dup)
c.5500-32_5500-28dup (n.5500-32_5500-28dup)
c.5455-32_5455-28dup (n.5455-32_5455-28dup)
c.5440-32_5440-28dup (n.5440-32_5440-28dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617956T>CCA2691935623SPTAN1c.5515-31T>C (n.5515-31T>C)
c.5479-31T>C (n.5479-31T>C)
c.4942-31T>C (n.4942-31T>C)
c.3102-31T>C
c.1089-31T>C
n.707-31T>C
c.5404-31T>C (n.5404-31T>C)
c.5464-31T>C (n.5464-31T>C)
c.5419-31T>C (n.5419-31T>C)
c.5500-31T>C (n.5500-31T>C)
c.5455-31T>C (n.5455-31T>C)
c.5440-31T>C (n.5440-31T>C)
 gnomAD v4
9g.128617957G=CA1880364299SPTAN1c.5515-30G= (n.5515-30G=)
c.5479-30G= (n.5479-30G=)
c.4942-30G= (n.4942-30G=)
c.3102-30G=
c.1089-30G=
n.707-30G=
c.5404-30G= (n.5404-30G=)
c.5464-30G= (n.5464-30G=)
c.5419-30G= (n.5419-30G=)
c.5500-30G= (n.5500-30G=)
c.5455-30G= (n.5455-30G=)
c.5440-30G= (n.5440-30G=)
9g.128617957G>TCA590638589SPTAN1c.5515-30G>T (n.5515-30G>T)
c.5479-30G>T (n.5479-30G>T)
c.4942-30G>T (n.4942-30G>T)
c.3102-30G>T
c.1089-30G>T
n.707-30G>T
c.5404-30G>T (n.5404-30G>T)
c.5464-30G>T (n.5464-30G>T)
c.5419-30G>T (n.5419-30G>T)
c.5500-30G>T (n.5500-30G>T)
c.5455-30G>T (n.5455-30G>T)
c.5440-30G>T (n.5440-30G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.128617960G>ACA2691935624SPTAN1c.5515-27G>A (n.5515-27G>A)
c.5479-27G>A (n.5479-27G>A)
c.4942-27G>A (n.4942-27G>A)
c.3102-27G>A
c.1089-27G>A
n.707-27G>A
c.5404-27G>A (n.5404-27G>A)
c.5464-27G>A (n.5464-27G>A)
c.5419-27G>A (n.5419-27G>A)
c.5500-27G>A (n.5500-27G>A)
c.5455-27G>A (n.5455-27G>A)
c.5440-27G>A (n.5440-27G>A)
 gnomAD v4
9g.128617961T>CCA5265478SPTAN1c.5515-26T>C (n.5515-26T>C)
c.5479-26T>C (n.5479-26T>C)
c.4942-26T>C (n.4942-26T>C)
c.3102-26T>C
c.1089-26T>C
n.707-26T>C
c.5404-26T>C (n.5404-26T>C)
c.5464-26T>C (n.5464-26T>C)
c.5419-26T>C (n.5419-26T>C)
c.5500-26T>C (n.5500-26T>C)
c.5455-26T>C (n.5455-26T>C)
c.5440-26T>C (n.5440-26T>C)
 dbSNP ExAC gnomAD v2
9g.128617961T=CA1880364300SPTAN1c.5515-26T= (n.5515-26T=)
c.5479-26T= (n.5479-26T=)
c.4942-26T= (n.4942-26T=)
c.3102-26T=
c.1089-26T=
n.707-26T=
c.5404-26T= (n.5404-26T=)
c.5464-26T= (n.5464-26T=)
c.5419-26T= (n.5419-26T=)
c.5500-26T= (n.5500-26T=)
c.5455-26T= (n.5455-26T=)
c.5440-26T= (n.5440-26T=)
9g.128617962T>GCA5265479SPTAN1c.5515-25T>G (n.5515-25T>G)
c.5479-25T>G (n.5479-25T>G)
c.4942-25T>G (n.4942-25T>G)
c.3102-25T>G
c.1089-25T>G
n.707-25T>G
c.5404-25T>G (n.5404-25T>G)
c.5464-25T>G (n.5464-25T>G)
c.5419-25T>G (n.5419-25T>G)
c.5500-25T>G (n.5500-25T>G)
c.5455-25T>G (n.5455-25T>G)
c.5440-25T>G (n.5440-25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617962T=CA1880364301SPTAN1c.5515-25T= (n.5515-25T=)
c.5479-25T= (n.5479-25T=)
c.4942-25T= (n.4942-25T=)
c.3102-25T=
c.1089-25T=
n.707-25T=
c.5404-25T= (n.5404-25T=)
c.5464-25T= (n.5464-25T=)
c.5419-25T= (n.5419-25T=)
c.5500-25T= (n.5500-25T=)
c.5455-25T= (n.5455-25T=)
c.5440-25T= (n.5440-25T=)
9g.128617966C=CA1880364302SPTAN1c.5515-21C= (n.5515-21C=)
c.5479-21C= (n.5479-21C=)
c.4942-21C= (n.4942-21C=)
c.3102-21C=
c.1089-21C=
n.707-21C=
c.5404-21C= (n.5404-21C=)
c.5464-21C= (n.5464-21C=)
c.5419-21C= (n.5419-21C=)
c.5500-21C= (n.5500-21C=)
c.5455-21C= (n.5455-21C=)
c.5440-21C= (n.5440-21C=)
9g.128617966C>TCA5265480SPTAN1c.5515-21C>T (n.5515-21C>T)
c.5479-21C>T (n.5479-21C>T)
c.4942-21C>T (n.4942-21C>T)
c.3102-21C>T
c.1089-21C>T
n.707-21C>T
c.5404-21C>T (n.5404-21C>T)
c.5464-21C>T (n.5464-21C>T)
c.5419-21C>T (n.5419-21C>T)
c.5500-21C>T (n.5500-21C>T)
c.5455-21C>T (n.5455-21C>T)
c.5440-21C>T (n.5440-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617967T>CCA860270312SPTAN1c.5515-20T>C (n.5515-20T>C)
c.5479-20T>C (n.5479-20T>C)
c.4942-20T>C (n.4942-20T>C)
c.3102-20T>C
c.1089-20T>C
n.707-20T>C
c.5404-20T>C (n.5404-20T>C)
c.5464-20T>C (n.5464-20T>C)
c.5419-20T>C (n.5419-20T>C)
c.5500-20T>C (n.5500-20T>C)
c.5455-20T>C (n.5455-20T>C)
c.5440-20T>C (n.5440-20T>C)
 dbSNP gnomAD v3 gnomAD v4
9g.128617967T=CA1880364303SPTAN1c.5515-20T= (n.5515-20T=)
c.5479-20T= (n.5479-20T=)
c.4942-20T= (n.4942-20T=)
c.3102-20T=
c.1089-20T=
n.707-20T=
c.5404-20T= (n.5404-20T=)
c.5464-20T= (n.5464-20T=)
c.5419-20T= (n.5419-20T=)
c.5500-20T= (n.5500-20T=)
c.5455-20T= (n.5455-20T=)
c.5440-20T= (n.5440-20T=)
9g.128617971_128617976dupCA2691935625SPTAN1c.5515-16_5515-11dup (n.5515-16_5515-11dup)
c.5479-16_5479-11dup (n.5479-16_5479-11dup)
c.4942-16_4942-11dup (n.4942-16_4942-11dup)
c.3102-16_3102-11dup
c.1089-16_1089-11dup
n.707-16_707-11dup
c.5404-16_5404-11dup (n.5404-16_5404-11dup)
c.5464-16_5464-11dup (n.5464-16_5464-11dup)
c.5419-16_5419-11dup (n.5419-16_5419-11dup)
c.5500-16_5500-11dup (n.5500-16_5500-11dup)
c.5455-16_5455-11dup (n.5455-16_5455-11dup)
c.5440-16_5440-11dup (n.5440-16_5440-11dup)
 gnomAD v4
9g.128617968C>TCA2691935626SPTAN1c.5515-19C>T (n.5515-19C>T)
c.5479-19C>T (n.5479-19C>T)
c.4942-19C>T (n.4942-19C>T)
c.3102-19C>T
c.1089-19C>T
n.707-19C>T
c.5404-19C>T (n.5404-19C>T)
c.5464-19C>T (n.5464-19C>T)
c.5419-19C>T (n.5419-19C>T)
c.5500-19C>T (n.5500-19C>T)
c.5455-19C>T (n.5455-19C>T)
c.5440-19C>T (n.5440-19C>T)
 gnomAD v4
9g.128617969C=CA1880364304SPTAN1c.5515-18C= (n.5515-18C=)
c.5479-18C= (n.5479-18C=)
c.4942-18C= (n.4942-18C=)
c.3102-18C=
c.1089-18C=
n.707-18C=
c.5404-18C= (n.5404-18C=)
c.5464-18C= (n.5464-18C=)
c.5419-18C= (n.5419-18C=)
c.5500-18C= (n.5500-18C=)
c.5455-18C= (n.5455-18C=)
c.5440-18C= (n.5440-18C=)
9g.128617969C>GCA2691935627SPTAN1c.5515-18C>G (n.5515-18C>G)
c.5479-18C>G (n.5479-18C>G)
c.4942-18C>G (n.4942-18C>G)
c.3102-18C>G
c.1089-18C>G
n.707-18C>G
c.5404-18C>G (n.5404-18C>G)
c.5464-18C>G (n.5464-18C>G)
c.5419-18C>G (n.5419-18C>G)
c.5500-18C>G (n.5500-18C>G)
c.5455-18C>G (n.5455-18C>G)
c.5440-18C>G (n.5440-18C>G)
 gnomAD v4
9g.128617969C>TCA590638772SPTAN1c.5515-18C>T (n.5515-18C>T)
c.5479-18C>T (n.5479-18C>T)
c.4942-18C>T (n.4942-18C>T)
c.3102-18C>T
c.1089-18C>T
n.707-18C>T
c.5404-18C>T (n.5404-18C>T)
c.5464-18C>T (n.5464-18C>T)
c.5419-18C>T (n.5419-18C>T)
c.5500-18C>T (n.5500-18C>T)
c.5455-18C>T (n.5455-18C>T)
c.5440-18C>T (n.5440-18C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.128617971C>TCA2579470249SPTAN1c.5515-16C>T (n.5515-16C>T)
c.5479-16C>T (n.5479-16C>T)
c.4942-16C>T (n.4942-16C>T)
c.3102-16C>T
c.1089-16C>T
n.707-16C>T
c.5404-16C>T (n.5404-16C>T)
c.5464-16C>T (n.5464-16C>T)
c.5419-16C>T (n.5419-16C>T)
c.5500-16C>T (n.5500-16C>T)
c.5455-16C>T (n.5455-16C>T)
c.5440-16C>T (n.5440-16C>T)
 ClinVar gnomAD v4
9g.128617972G>ACA5265481SPTAN1c.5515-15G>A (n.5515-15G>A)
c.5479-15G>A (n.5479-15G>A)
c.4942-15G>A (n.4942-15G>A)
c.3102-15G>A
c.1089-15G>A
n.707-15G>A
c.5404-15G>A (n.5404-15G>A)
c.5464-15G>A (n.5464-15G>A)
c.5419-15G>A (n.5419-15G>A)
c.5500-15G>A (n.5500-15G>A)
c.5455-15G>A (n.5455-15G>A)
c.5440-15G>A (n.5440-15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617972G=CA1880364305SPTAN1c.5515-15G= (n.5515-15G=)
c.5479-15G= (n.5479-15G=)
c.4942-15G= (n.4942-15G=)
c.3102-15G=
c.1089-15G=
n.707-15G=
c.5404-15G= (n.5404-15G=)
c.5464-15G= (n.5464-15G=)
c.5419-15G= (n.5419-15G=)
c.5500-15G= (n.5500-15G=)
c.5455-15G= (n.5455-15G=)
c.5440-15G= (n.5440-15G=)
9g.128617973T>CCA5265482SPTAN1c.5515-14T>C (n.5515-14T>C)
c.5479-14T>C (n.5479-14T>C)
c.4942-14T>C (n.4942-14T>C)
c.3102-14T>C
c.1089-14T>C
n.707-14T>C
c.5404-14T>C (n.5404-14T>C)
c.5464-14T>C (n.5464-14T>C)
c.5419-14T>C (n.5419-14T>C)
c.5500-14T>C (n.5500-14T>C)
c.5455-14T>C (n.5455-14T>C)
c.5440-14T>C (n.5440-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617973T=CA1880364306SPTAN1c.5515-14T= (n.5515-14T=)
c.5479-14T= (n.5479-14T=)
c.4942-14T= (n.4942-14T=)
c.3102-14T=
c.1089-14T=
n.707-14T=
c.5404-14T= (n.5404-14T=)
c.5464-14T= (n.5464-14T=)
c.5419-14T= (n.5419-14T=)
c.5500-14T= (n.5500-14T=)
c.5455-14T= (n.5455-14T=)
c.5440-14T= (n.5440-14T=)
9g.128617974C=CA1880364307SPTAN1c.5515-13C= (n.5515-13C=)
c.5479-13C= (n.5479-13C=)
c.4942-13C= (n.4942-13C=)
c.3102-13C=
c.1089-13C=
n.707-13C=
c.5404-13C= (n.5404-13C=)
c.5464-13C= (n.5464-13C=)
c.5419-13C= (n.5419-13C=)
c.5500-13C= (n.5500-13C=)
c.5455-13C= (n.5455-13C=)
c.5440-13C= (n.5440-13C=)
9g.128617974C>TCA200401734SPTAN1c.5515-13C>T (n.5515-13C>T)
c.5479-13C>T (n.5479-13C>T)
c.4942-13C>T (n.4942-13C>T)
c.3102-13C>T
c.1089-13C>T
n.707-13C>T
c.5404-13C>T (n.5404-13C>T)
c.5464-13C>T (n.5464-13C>T)
c.5419-13C>T (n.5419-13C>T)
c.5500-13C>T (n.5500-13C>T)
c.5455-13C>T (n.5455-13C>T)
c.5440-13C>T (n.5440-13C>T)
 dbSNP gnomAD v4
9g.128617975C=CA1880364308SPTAN1c.5515-12C= (n.5515-12C=)
c.5479-12C= (n.5479-12C=)
c.4942-12C= (n.4942-12C=)
c.3102-12C=
c.1089-12C=
n.707-12C=
c.5404-12C= (n.5404-12C=)
c.5464-12C= (n.5464-12C=)
c.5419-12C= (n.5419-12C=)
c.5500-12C= (n.5500-12C=)
c.5455-12C= (n.5455-12C=)
c.5440-12C= (n.5440-12C=)
9g.128617975C>GCA1880364309SPTAN1c.5515-12C>G (n.5515-12C>G)
c.5479-12C>G (n.5479-12C>G)
c.4942-12C>G (n.4942-12C>G)
c.3102-12C>G
c.1089-12C>G
n.707-12C>G
c.5404-12C>G (n.5404-12C>G)
c.5464-12C>G (n.5464-12C>G)
c.5419-12C>G (n.5419-12C>G)
c.5500-12C>G (n.5500-12C>G)
c.5455-12C>G (n.5455-12C>G)
c.5440-12C>G (n.5440-12C>G)
 dbSNP
9g.128617978G>ACA2786023054SPTAN1c.5515-9G>A (n.5515-9G>A)
c.5479-9G>A (n.5479-9G>A)
c.4942-9G>A (n.4942-9G>A)
c.3102-9G>A
c.1089-9G>A
n.707-9G>A
c.5404-9G>A (n.5404-9G>A)
c.5464-9G>A (n.5464-9G>A)
c.5419-9G>A (n.5419-9G>A)
c.5500-9G>A (n.5500-9G>A)
c.5455-9G>A (n.5455-9G>A)
c.5440-9G>A (n.5440-9G>A)
9g.128617979C=CA1880364310SPTAN1c.5515-8C= (n.5515-8C=)
c.5479-8C= (n.5479-8C=)
c.4942-8C= (n.4942-8C=)
c.3102-8C=
c.1089-8C=
n.707-8C=
c.5404-8C= (n.5404-8C=)
c.5464-8C= (n.5464-8C=)
c.5419-8C= (n.5419-8C=)
c.5500-8C= (n.5500-8C=)
c.5455-8C= (n.5455-8C=)
c.5440-8C= (n.5440-8C=)
9g.128617979C>TCA5265483SPTAN1c.5515-8C>T (n.5515-8C>T)
c.5479-8C>T (n.5479-8C>T)
c.4942-8C>T (n.4942-8C>T)
c.3102-8C>T
c.1089-8C>T
n.707-8C>T
c.5404-8C>T (n.5404-8C>T)
c.5464-8C>T (n.5464-8C>T)
c.5419-8C>T (n.5419-8C>T)
c.5500-8C>T (n.5500-8C>T)
c.5455-8C>T (n.5455-8C>T)
c.5440-8C>T (n.5440-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617982G>ACA645372489SPTAN1c.5515-5G>A (n.5515-5G>A)
c.5479-5G>A (n.5479-5G>A)
c.4942-5G>A (n.4942-5G>A)
c.3102-5G>A
c.1089-5G>A
n.707-5G>A
c.5404-5G>A (n.5404-5G>A)
c.5464-5G>A (n.5464-5G>A)
c.5419-5G>A (n.5419-5G>A)
c.5500-5G>A (n.5500-5G>A)
c.5455-5G>A (n.5455-5G>A)
c.5440-5G>A (n.5440-5G>A)
 ClinVar dbSNP
9g.128617982G=CA1880364311SPTAN1c.5515-5G= (n.5515-5G=)
c.5479-5G= (n.5479-5G=)
c.4942-5G= (n.4942-5G=)
c.3102-5G=
c.1089-5G=
n.707-5G=
c.5404-5G= (n.5404-5G=)
c.5464-5G= (n.5464-5G=)
c.5419-5G= (n.5419-5G=)
c.5500-5G= (n.5500-5G=)
c.5455-5G= (n.5455-5G=)
c.5440-5G= (n.5440-5G=)
9g.128617983T>GCA5265484SPTAN1c.5515-4T>G (n.5515-4T>G)
c.5479-4T>G (n.5479-4T>G)
c.4942-4T>G (n.4942-4T>G)
c.3102-4T>G
c.1089-4T>G
n.707-4T>G
c.5404-4T>G (n.5404-4T>G)
c.5464-4T>G (n.5464-4T>G)
c.5419-4T>G (n.5419-4T>G)
c.5500-4T>G (n.5500-4T>G)
c.5455-4T>G (n.5455-4T>G)
c.5440-4T>G (n.5440-4T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617983T=CA1880364312SPTAN1c.5515-4T= (n.5515-4T=)
c.5479-4T= (n.5479-4T=)
c.4942-4T= (n.4942-4T=)
c.3102-4T=
c.1089-4T=
n.707-4T=
c.5404-4T= (n.5404-4T=)
c.5464-4T= (n.5464-4T=)
c.5419-4T= (n.5419-4T=)
c.5500-4T= (n.5500-4T=)
c.5455-4T= (n.5455-4T=)
c.5440-4T= (n.5440-4T=)
9g.128617984C>ACA590638779SPTAN1c.5515-3C>A (n.5515-3C>A)
c.5479-3C>A (n.5479-3C>A)
c.4942-3C>A (n.4942-3C>A)
c.3102-3C>A
c.1089-3C>A
n.707-3C>A
c.5404-3C>A (n.5404-3C>A)
c.5464-3C>A (n.5464-3C>A)
c.5419-3C>A (n.5419-3C>A)
c.5500-3C>A (n.5500-3C>A)
c.5455-3C>A (n.5455-3C>A)
c.5440-3C>A (n.5440-3C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.128617984C=CA1880364313SPTAN1c.5515-3C= (n.5515-3C=)
c.5479-3C= (n.5479-3C=)
c.4942-3C= (n.4942-3C=)
c.3102-3C=
c.1089-3C=
n.707-3C=
c.5404-3C= (n.5404-3C=)
c.5464-3C= (n.5464-3C=)
c.5419-3C= (n.5419-3C=)
c.5500-3C= (n.5500-3C=)
c.5455-3C= (n.5455-3C=)
c.5440-3C= (n.5440-3C=)
9g.128617984C>TCA2573143911SPTAN1c.5515-3C>T (n.5515-3C>T)
c.5479-3C>T (n.5479-3C>T)
c.4942-3C>T (n.4942-3C>T)
c.3102-3C>T
c.1089-3C>T
n.707-3C>T
c.5404-3C>T (n.5404-3C>T)
c.5464-3C>T (n.5464-3C>T)
c.5419-3C>T (n.5419-3C>T)
c.5500-3C>T (n.5500-3C>T)
c.5455-3C>T (n.5455-3C>T)
c.5440-3C>T (n.5440-3C>T)
 ClinVar dbSNP gnomAD v4
9g.128617985A>CCA375076733SPTAN1c.5515-2A>C (n.5515-2A>C)
c.5479-2A>C (n.5479-2A>C)
c.4942-2A>C (n.4942-2A>C)
c.3102-2A>C
c.1089-2A>C
n.707-2A>C
c.5404-2A>C (n.5404-2A>C)
c.5464-2A>C (n.5464-2A>C)
c.5419-2A>C (n.5419-2A>C)
c.5500-2A>C (n.5500-2A>C)
c.5455-2A>C (n.5455-2A>C)
c.5440-2A>C (n.5440-2A>C)
9g.128617985A>GCA375076740SPTAN1c.5515-2A>G (n.5515-2A>G)
c.5479-2A>G (n.5479-2A>G)
c.4942-2A>G (n.4942-2A>G)
c.3102-2A>G
c.1089-2A>G
n.707-2A>G
c.5404-2A>G (n.5404-2A>G)
c.5464-2A>G (n.5464-2A>G)
c.5419-2A>G (n.5419-2A>G)
c.5500-2A>G (n.5500-2A>G)
c.5455-2A>G (n.5455-2A>G)
c.5440-2A>G (n.5440-2A>G)
9g.128617985A>TCA375076743SPTAN1c.5515-2A>T (n.5515-2A>T)
c.5479-2A>T (n.5479-2A>T)
c.4942-2A>T (n.4942-2A>T)
c.3102-2A>T
c.1089-2A>T
n.707-2A>T
c.5404-2A>T (n.5404-2A>T)
c.5464-2A>T (n.5464-2A>T)
c.5419-2A>T (n.5419-2A>T)
c.5500-2A>T (n.5500-2A>T)
c.5455-2A>T (n.5455-2A>T)
c.5440-2A>T (n.5440-2A>T)
9g.128617986G>ACA375076749SPTAN1c.5515-1G>A (n.5515-1G>A)
c.5479-1G>A (n.5479-1G>A)
c.4942-1G>A (n.4942-1G>A)
c.3102-1G>A
c.1089-1G>A
n.707-1G>A
c.5404-1G>A (n.5404-1G>A)
c.5464-1G>A (n.5464-1G>A)
c.5419-1G>A (n.5419-1G>A)
c.5500-1G>A (n.5500-1G>A)
c.5455-1G>A (n.5455-1G>A)
c.5440-1G>A (n.5440-1G>A)
 gnomAD v4
9g.128617986G>CCA375076748SPTAN1c.5515-1G>C (n.5515-1G>C)
c.5479-1G>C (n.5479-1G>C)
c.4942-1G>C (n.4942-1G>C)
c.3102-1G>C
c.1089-1G>C
n.707-1G>C
c.5404-1G>C (n.5404-1G>C)
c.5464-1G>C (n.5464-1G>C)
c.5419-1G>C (n.5419-1G>C)
c.5500-1G>C (n.5500-1G>C)
c.5455-1G>C (n.5455-1G>C)
c.5440-1G>C (n.5440-1G>C)
 gnomAD v4
9g.128617986G>TCA375076746SPTAN1c.5515-1G>T (n.5515-1G>T)
c.5479-1G>T (n.5479-1G>T)
c.4942-1G>T (n.4942-1G>T)
c.3102-1G>T
c.1089-1G>T
n.707-1G>T
c.5404-1G>T (n.5404-1G>T)
c.5464-1G>T (n.5464-1G>T)
c.5419-1G>T (n.5419-1G>T)
c.5500-1G>T (n.5500-1G>T)
c.5455-1G>T (n.5455-1G>T)
c.5440-1G>T (n.5440-1G>T)
9g.128617987G>ACA375076750SPTAN1c.5515G>A (p.Gly1839Ser)
c.5479G>A (p.Gly1827Ser)
c.4942G>A (p.Gly1648Ser)
c.3102G>A
c.1089G>A
n.707G>A
c.5404G>A (p.Gly1802Ser)
c.5464G>A (p.Gly1822Ser)
c.5419G>A (p.Gly1807Ser)
c.5500G>A (p.Gly1834Ser)
c.5455G>A (p.Gly1819Ser)
c.5440G>A (p.Gly1814Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.128617987G>CCA375076751SPTAN1c.5515G>C (p.Gly1839Arg)
c.5479G>C (p.Gly1827Arg)
c.4942G>C (p.Gly1648Arg)
c.3102G>C
c.1089G>C
n.707G>C
c.5404G>C (p.Gly1802Arg)
c.5464G>C (p.Gly1822Arg)
c.5419G>C (p.Gly1807Arg)
c.5500G>C (p.Gly1834Arg)
c.5455G>C (p.Gly1819Arg)
c.5440G>C (p.Gly1814Arg)
9g.128617987G=CA1880364314SPTAN1c.5515G= (p.Gly1839=)
c.5479G= (p.Gly1827=)
c.4942G= (p.Gly1648=)
c.3102G=
c.1089G=
n.707G=
c.5404G= (p.Gly1802=)
c.5464G= (p.Gly1822=)
c.5419G= (p.Gly1807=)
c.5500G= (p.Gly1834=)
c.5455G= (p.Gly1819=)
c.5440G= (p.Gly1814=)
9g.128617987G>TCA375076753SPTAN1c.5515G>T (p.Gly1839Cys)
c.5479G>T (p.Gly1827Cys)
c.4942G>T (p.Gly1648Cys)
c.3102G>T
c.1089G>T
n.707G>T
c.5404G>T (p.Gly1802Cys)
c.5464G>T (p.Gly1822Cys)
c.5419G>T (p.Gly1807Cys)
c.5500G>T (p.Gly1834Cys)
c.5455G>T (p.Gly1819Cys)
c.5440G>T (p.Gly1814Cys)
9g.128617988G>ACA375076755SPTAN1c.5516G>A (p.Gly1839Asp)
c.5480G>A (p.Gly1827Asp)
c.4943G>A (p.Gly1648Asp)
c.3103G>A
c.1090G>A
n.708G>A
c.5405G>A (p.Gly1802Asp)
c.5465G>A (p.Gly1822Asp)
c.5420G>A (p.Gly1807Asp)
c.5501G>A (p.Gly1834Asp)
c.5456G>A (p.Gly1819Asp)
c.5441G>A (p.Gly1814Asp)
 dbSNP gnomAD v2
9g.128617988G>CCA375076757SPTAN1c.5516G>C (p.Gly1839Ala)
c.5480G>C (p.Gly1827Ala)
c.4943G>C (p.Gly1648Ala)
c.3103G>C
c.1090G>C
n.708G>C
c.5405G>C (p.Gly1802Ala)
c.5465G>C (p.Gly1822Ala)
c.5420G>C (p.Gly1807Ala)
c.5501G>C (p.Gly1834Ala)
c.5456G>C (p.Gly1819Ala)
c.5441G>C (p.Gly1814Ala)
9g.128617988G=CA1880364315SPTAN1c.5516G= (p.Gly1839=)
c.5480G= (p.Gly1827=)
c.4943G= (p.Gly1648=)
c.3103G=
c.1090G=
n.708G=
c.5405G= (p.Gly1802=)
c.5465G= (p.Gly1822=)
c.5420G= (p.Gly1807=)
c.5501G= (p.Gly1834=)
c.5456G= (p.Gly1819=)
c.5441G= (p.Gly1814=)
9g.128617988G>TCA375076760SPTAN1c.5516G>T (p.Gly1839Val)
c.5480G>T (p.Gly1827Val)
c.4943G>T (p.Gly1648Val)
c.3103G>T
c.1090G>T
n.708G>T
c.5405G>T (p.Gly1802Val)
c.5465G>T (p.Gly1822Val)
c.5420G>T (p.Gly1807Val)
c.5501G>T (p.Gly1834Val)
c.5456G>T (p.Gly1819Val)
c.5441G>T (p.Gly1814Val)
 gnomAD v4
9g.128617989T>ACA467303866SPTAN1c.5517T>A (p.Gly1839=)
c.5481T>A (p.Gly1827=)
c.4944T>A (p.Gly1648=)
c.3104T>A
c.1091T>A
n.709T>A
c.5406T>A (p.Gly1802=)
c.5466T>A (p.Gly1822=)
c.5421T>A (p.Gly1807=)
c.5502T>A (p.Gly1834=)
c.5457T>A (p.Gly1819=)
c.5442T>A (p.Gly1814=)
9g.128617989T>CCA467303867SPTAN1c.5517T>C (p.Gly1839=)
c.5481T>C (p.Gly1827=)
c.4944T>C (p.Gly1648=)
c.3104T>C
c.1091T>C
n.709T>C
c.5406T>C (p.Gly1802=)
c.5466T>C (p.Gly1822=)
c.5421T>C (p.Gly1807=)
c.5502T>C (p.Gly1834=)
c.5457T>C (p.Gly1819=)
c.5442T>C (p.Gly1814=)
9g.128617989T>GCA467303868SPTAN1c.5517T>G (p.Gly1839=)
c.5481T>G (p.Gly1827=)
c.4944T>G (p.Gly1648=)
c.3104T>G
c.1091T>G
n.709T>G
c.5406T>G (p.Gly1802=)
c.5466T>G (p.Gly1822=)
c.5421T>G (p.Gly1807=)
c.5502T>G (p.Gly1834=)
c.5457T>G (p.Gly1819=)
c.5442T>G (p.Gly1814=)
9g.128617990G>ACA375076766SPTAN1c.5518G>A (p.Val1840Ile)
c.5482G>A (p.Val1828Ile)
c.4945G>A (p.Val1649Ile)
c.3105G>A
c.1092G>A
n.710G>A
c.5407G>A (p.Val1803Ile)
c.5467G>A (p.Val1823Ile)
c.5422G>A (p.Val1808Ile)
c.5503G>A (p.Val1835Ile)
c.5458G>A (p.Val1820Ile)
c.5443G>A (p.Val1815Ile)
 ClinVar
9g.128617990G>CCA375076772SPTAN1c.5518G>C (p.Val1840Leu)
c.5482G>C (p.Val1828Leu)
c.4945G>C (p.Val1649Leu)
c.3105G>C
c.1092G>C
n.710G>C
c.5407G>C (p.Val1803Leu)
c.5467G>C (p.Val1823Leu)
c.5422G>C (p.Val1808Leu)
c.5503G>C (p.Val1835Leu)
c.5458G>C (p.Val1820Leu)
c.5443G>C (p.Val1815Leu)
9g.128617990G>TCA375076769SPTAN1c.5518G>T (p.Val1840Phe)
c.5482G>T (p.Val1828Phe)
c.4945G>T (p.Val1649Phe)
c.3105G>T
c.1092G>T
n.710G>T
c.5407G>T (p.Val1803Phe)
c.5467G>T (p.Val1823Phe)
c.5422G>T (p.Val1808Phe)
c.5503G>T (p.Val1835Phe)
c.5458G>T (p.Val1820Phe)
c.5443G>T (p.Val1815Phe)
9g.128617991T>ACA375076776SPTAN1c.5519T>A (p.Val1840Asp)
c.5483T>A (p.Val1828Asp)
c.4946T>A (p.Val1649Asp)
c.3106T>A
c.1093T>A
n.711T>A
c.5408T>A (p.Val1803Asp)
c.5468T>A (p.Val1823Asp)
c.5423T>A (p.Val1808Asp)
c.5504T>A (p.Val1835Asp)
c.5459T>A (p.Val1820Asp)
c.5444T>A (p.Val1815Asp)
9g.128617991T>CCA375076779SPTAN1c.5519T>C (p.Val1840Ala)
c.5483T>C (p.Val1828Ala)
c.4946T>C (p.Val1649Ala)
c.3106T>C
c.1093T>C
n.711T>C
c.5408T>C (p.Val1803Ala)
c.5468T>C (p.Val1823Ala)
c.5423T>C (p.Val1808Ala)
c.5504T>C (p.Val1835Ala)
c.5459T>C (p.Val1820Ala)
c.5444T>C (p.Val1815Ala)
 ClinVar
9g.128617991T>GCA375076781SPTAN1c.5519T>G (p.Val1840Gly)
c.5483T>G (p.Val1828Gly)
c.4946T>G (p.Val1649Gly)
c.3106T>G
c.1093T>G
n.711T>G
c.5408T>G (p.Val1803Gly)
c.5468T>G (p.Val1823Gly)
c.5423T>G (p.Val1808Gly)
c.5504T>G (p.Val1835Gly)
c.5459T>G (p.Val1820Gly)
c.5444T>G (p.Val1815Gly)
9g.128617992C>ACA467303870SPTAN1c.5520C>A (p.Val1840=)
c.5484C>A (p.Val1828=)
c.4947C>A (p.Val1649=)
c.3107C>A
c.1094C>A
n.712C>A
c.5409C>A (p.Val1803=)
c.5469C>A (p.Val1823=)
c.5424C>A (p.Val1808=)
c.5505C>A (p.Val1835=)
c.5460C>A (p.Val1820=)
c.5445C>A (p.Val1815=)
9g.128617992C=CA1880364316SPTAN1c.5520C= (p.Val1840=)
c.5484C= (p.Val1828=)
c.4947C= (p.Val1649=)
c.3107C=
c.1094C=
n.712C=
c.5409C= (p.Val1803=)
c.5469C= (p.Val1823=)
c.5424C= (p.Val1808=)
c.5505C= (p.Val1835=)
c.5460C= (p.Val1820=)
c.5445C= (p.Val1815=)
9g.128617992C>GCA5265485SPTAN1c.5520C>G (p.Val1840=)
c.5484C>G (p.Val1828=)
c.4947C>G (p.Val1649=)
c.3107C>G
c.1094C>G
n.712C>G
c.5409C>G (p.Val1803=)
c.5469C>G (p.Val1823=)
c.5424C>G (p.Val1808=)
c.5505C>G (p.Val1835=)
c.5460C>G (p.Val1820=)
c.5445C>G (p.Val1815=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617992C>TCA467303873SPTAN1c.5520C>T (p.Val1840=)
c.5484C>T (p.Val1828=)
c.4947C>T (p.Val1649=)
c.3107C>T
c.1094C>T
n.712C>T
c.5409C>T (p.Val1803=)
c.5469C>T (p.Val1823=)
c.5424C>T (p.Val1808=)
c.5505C>T (p.Val1835=)
c.5460C>T (p.Val1820=)
c.5445C>T (p.Val1815=)
9g.128617993C>ACA375076784SPTAN1c.5521C>A (p.Leu1841Met)
c.5485C>A (p.Leu1829Met)
c.4948C>A (p.Leu1650Met)
c.3108C>A
c.1095C>A
n.713C>A
c.5410C>A (p.Leu1804Met)
c.5470C>A (p.Leu1824Met)
c.5425C>A (p.Leu1809Met)
c.5506C>A (p.Leu1836Met)
c.5461C>A (p.Leu1821Met)
c.5446C>A (p.Leu1816Met)
9g.128617993C=CA1880364317SPTAN1c.5521C= (p.Leu1841=)
c.5485C= (p.Leu1829=)
c.4948C= (p.Leu1650=)
c.3108C=
c.1095C=
n.713C=
c.5410C= (p.Leu1804=)
c.5470C= (p.Leu1824=)
c.5425C= (p.Leu1809=)
c.5506C= (p.Leu1836=)
c.5461C= (p.Leu1821=)
c.5446C= (p.Leu1816=)
9g.128617993C>GCA375076785SPTAN1c.5521C>G (p.Leu1841Val)
c.5485C>G (p.Leu1829Val)
c.4948C>G (p.Leu1650Val)
c.3108C>G
c.1095C>G
n.713C>G
c.5410C>G (p.Leu1804Val)
c.5470C>G (p.Leu1824Val)
c.5425C>G (p.Leu1809Val)
c.5506C>G (p.Leu1836Val)
c.5461C>G (p.Leu1821Val)
c.5446C>G (p.Leu1816Val)
9g.128617993C>TCA467303875SPTAN1c.5521C>T (p.Leu1841=)
c.5485C>T (p.Leu1829=)
c.4948C>T (p.Leu1650=)
c.3108C>T
c.1095C>T
n.713C>T
c.5410C>T (p.Leu1804=)
c.5470C>T (p.Leu1824=)
c.5425C>T (p.Leu1809=)
c.5506C>T (p.Leu1836=)
c.5461C>T (p.Leu1821=)
c.5446C>T (p.Leu1816=)
 dbSNP gnomAD v3 gnomAD v4
9g.128617994T>ACA375076788SPTAN1c.5522T>A (p.Leu1841Gln)
c.5486T>A (p.Leu1829Gln)
c.4949T>A (p.Leu1650Gln)
c.3109T>A
c.1096T>A
n.714T>A
c.5411T>A (p.Leu1804Gln)
c.5471T>A (p.Leu1824Gln)
c.5426T>A (p.Leu1809Gln)
c.5507T>A (p.Leu1836Gln)
c.5462T>A (p.Leu1821Gln)
c.5447T>A (p.Leu1816Gln)
9g.128617994T>CCA375076790SPTAN1c.5522T>C (p.Leu1841Pro)
c.5486T>C (p.Leu1829Pro)
c.4949T>C (p.Leu1650Pro)
c.3109T>C
c.1096T>C
n.714T>C
c.5411T>C (p.Leu1804Pro)
c.5471T>C (p.Leu1824Pro)
c.5426T>C (p.Leu1809Pro)
c.5507T>C (p.Leu1836Pro)
c.5462T>C (p.Leu1821Pro)
c.5447T>C (p.Leu1816Pro)
9g.128617994T>GCA375076792SPTAN1c.5522T>G (p.Leu1841Arg)
c.5486T>G (p.Leu1829Arg)
c.4949T>G (p.Leu1650Arg)
c.3109T>G
c.1096T>G
n.714T>G
c.5411T>G (p.Leu1804Arg)
c.5471T>G (p.Leu1824Arg)
c.5426T>G (p.Leu1809Arg)
c.5507T>G (p.Leu1836Arg)
c.5462T>G (p.Leu1821Arg)
c.5447T>G (p.Leu1816Arg)
9g.128617995G>ACA467303876SPTAN1c.5523G>A (p.Leu1841=)
c.5487G>A (p.Leu1829=)
c.4950G>A (p.Leu1650=)
c.3110G>A
c.1097G>A
n.715G>A
c.5412G>A (p.Leu1804=)
c.5472G>A (p.Leu1824=)
c.5427G>A (p.Leu1809=)
c.5508G>A (p.Leu1836=)
c.5463G>A (p.Leu1821=)
c.5448G>A (p.Leu1816=)
 dbSNP gnomAD v4
9g.128617995G>CCA467303878SPTAN1c.5523G>C (p.Leu1841=)
c.5487G>C (p.Leu1829=)
c.4950G>C (p.Leu1650=)
c.3110G>C
c.1097G>C
n.715G>C
c.5412G>C (p.Leu1804=)
c.5472G>C (p.Leu1824=)
c.5427G>C (p.Leu1809=)
c.5508G>C (p.Leu1836=)
c.5463G>C (p.Leu1821=)
c.5448G>C (p.Leu1816=)
9g.128617995G=CA1880364318SPTAN1c.5523G= (p.Leu1841=)
c.5487G= (p.Leu1829=)
c.4950G= (p.Leu1650=)
c.3110G=
c.1097G=
n.715G=
c.5412G= (p.Leu1804=)
c.5472G= (p.Leu1824=)
c.5427G= (p.Leu1809=)
c.5508G= (p.Leu1836=)
c.5463G= (p.Leu1821=)
c.5448G= (p.Leu1816=)
9g.128617995G>TCA467303880SPTAN1c.5523G>T (p.Leu1841=)
c.5487G>T (p.Leu1829=)
c.4950G>T (p.Leu1650=)
c.3110G>T
c.1097G>T
n.715G>T
c.5412G>T (p.Leu1804=)
c.5472G>T (p.Leu1824=)
c.5427G>T (p.Leu1809=)
c.5508G>T (p.Leu1836=)
c.5463G>T (p.Leu1821=)
c.5448G>T (p.Leu1816=)
9g.128617996G>ACA375076795SPTAN1c.5524G>A (p.Asp1842Asn)
c.5488G>A (p.Asp1830Asn)
c.4951G>A (p.Asp1651Asn)
c.3111G>A
c.1098G>A
n.716G>A
c.5413G>A (p.Asp1805Asn)
c.5473G>A (p.Asp1825Asn)
c.5428G>A (p.Asp1810Asn)
c.5509G>A (p.Asp1837Asn)
c.5464G>A (p.Asp1822Asn)
c.5449G>A (p.Asp1817Asn)
 gnomAD v4
9g.128617996G>CCA375076797SPTAN1c.5524G>C (p.Asp1842His)
c.5488G>C (p.Asp1830His)
c.4951G>C (p.Asp1651His)
c.3111G>C
c.1098G>C
n.716G>C
c.5413G>C (p.Asp1805His)
c.5473G>C (p.Asp1825His)
c.5428G>C (p.Asp1810His)
c.5509G>C (p.Asp1837His)
c.5464G>C (p.Asp1822His)
c.5449G>C (p.Asp1817His)
9g.128617996G>TCA375076800SPTAN1c.5524G>T (p.Asp1842Tyr)
c.5488G>T (p.Asp1830Tyr)
c.4951G>T (p.Asp1651Tyr)
c.3111G>T
c.1098G>T
n.716G>T
c.5413G>T (p.Asp1805Tyr)
c.5473G>T (p.Asp1825Tyr)
c.5428G>T (p.Asp1810Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5464G>T (p.Asp1822Tyr)
c.5449G>T (p.Asp1817Tyr)
9g.128617997A>CCA375076806SPTAN1c.5525A>C (p.Asp1842Ala)
c.5489A>C (p.Asp1830Ala)
c.4952A>C (p.Asp1651Ala)
c.3112A>C
c.1099A>C
n.717A>C
c.5414A>C (p.Asp1805Ala)
c.5474A>C (p.Asp1825Ala)
c.5429A>C (p.Asp1810Ala)
c.5510A>C (p.Asp1837Ala)
c.5465A>C (p.Asp1822Ala)
c.5450A>C (p.Asp1817Ala)
9g.128617997A>GCA375076809SPTAN1c.5525A>G (p.Asp1842Gly)
c.5489A>G (p.Asp1830Gly)
c.4952A>G (p.Asp1651Gly)
c.3112A>G
c.1099A>G
n.717A>G
c.5414A>G (p.Asp1805Gly)
c.5474A>G (p.Asp1825Gly)
c.5429A>G (p.Asp1810Gly)
c.5510A>G (p.Asp1837Gly)
c.5465A>G (p.Asp1822Gly)
c.5450A>G (p.Asp1817Gly)
9g.128617997A>TCA375076803SPTAN1c.5525A>T (p.Asp1842Val)
c.5489A>T (p.Asp1830Val)
c.4952A>T (p.Asp1651Val)
c.3112A>T
c.1099A>T
n.717A>T
c.5414A>T (p.Asp1805Val)
c.5474A>T (p.Asp1825Val)
c.5429A>T (p.Asp1810Val)
c.5510A>T (p.Asp1837Val)
c.5465A>T (p.Asp1822Val)
c.5450A>T (p.Asp1817Val)
9g.128617998C>ACA375076815SPTAN1c.5526C>A (p.Asp1842Glu)
c.5490C>A (p.Asp1830Glu)
c.4953C>A (p.Asp1651Glu)
c.3113C>A
c.1100C>A
n.718C>A
c.5415C>A (p.Asp1805Glu)
c.5475C>A (p.Asp1825Glu)
c.5430C>A (p.Asp1810Glu)
c.5511C>A (p.Asp1837Glu)
c.5466C>A (p.Asp1822Glu)
c.5451C>A (p.Asp1817Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.128617998C=CA1880364319SPTAN1c.5526C= (p.Asp1842=)
c.5490C= (p.Asp1830=)
c.4953C= (p.Asp1651=)
c.3113C=
c.1100C=
n.718C=
c.5415C= (p.Asp1805=)
c.5475C= (p.Asp1825=)
c.5430C= (p.Asp1810=)
c.5511C= (p.Asp1837=)
c.5466C= (p.Asp1822=)
c.5451C= (p.Asp1817=)
9g.128617998C>GCA375076814SPTAN1c.5526C>G (p.Asp1842Glu)
c.5490C>G (p.Asp1830Glu)
c.4953C>G (p.Asp1651Glu)
c.3113C>G
c.1100C>G
n.718C>G
c.5415C>G (p.Asp1805Glu)
c.5475C>G (p.Asp1825Glu)
c.5430C>G (p.Asp1810Glu)
c.5511C>G (p.Asp1837Glu)
c.5466C>G (p.Asp1822Glu)
c.5451C>G (p.Asp1817Glu)
9g.128617998C>TCA467303882SPTAN1c.5526C>T (p.Asp1842=)
c.5490C>T (p.Asp1830=)
c.4953C>T (p.Asp1651=)
c.3113C>T
c.1100C>T
n.718C>T
c.5415C>T (p.Asp1805=)
c.5475C>T (p.Asp1825=)
c.5430C>T (p.Asp1810=)
c.5511C>T (p.Asp1837=)
c.5466C>T (p.Asp1822=)
c.5451C>T (p.Asp1817=)
9g.128617999A=CA1880364320SPTAN1c.5527A= (p.Thr1843=)
c.5491A= (p.Thr1831=)
c.4954A= (p.Thr1652=)
c.3114A=
c.1101A=
n.719A=
c.5416A= (p.Thr1806=)
c.5476A= (p.Thr1826=)
c.5431A= (p.Thr1811=)
c.5512A= (p.Thr1838=)
c.5467A= (p.Thr1823=)
c.5452A= (p.Thr1818=)
9g.128617999A>CCA375076819SPTAN1c.5527A>C (p.Thr1843Pro)
c.5491A>C (p.Thr1831Pro)
c.4954A>C (p.Thr1652Pro)
c.3114A>C
c.1101A>C
n.719A>C
c.5416A>C (p.Thr1806Pro)
c.5476A>C (p.Thr1826Pro)
c.5431A>C (p.Thr1811Pro)
c.5512A>C (p.Thr1838Pro)
c.5467A>C (p.Thr1823Pro)
c.5452A>C (p.Thr1818Pro)
9g.128617999A>GCA5265486SPTAN1c.5527A>G (p.Thr1843Ala)
c.5491A>G (p.Thr1831Ala)
c.4954A>G (p.Thr1652Ala)
c.3114A>G
c.1101A>G
n.719A>G
c.5416A>G (p.Thr1806Ala)
c.5476A>G (p.Thr1826Ala)
c.5431A>G (p.Thr1811Ala)
c.5512A>G (p.Thr1838Ala)
c.5467A>G (p.Thr1823Ala)
c.5452A>G (p.Thr1818Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617999A>TCA375076822SPTAN1c.5527A>T (p.Thr1843Ser)
c.5491A>T (p.Thr1831Ser)
c.4954A>T (p.Thr1652Ser)
c.3114A>T
c.1101A>T
n.719A>T
c.5416A>T (p.Thr1806Ser)
c.5476A>T (p.Thr1826Ser)
c.5431A>T (p.Thr1811Ser)
c.5512A>T (p.Thr1838Ser)
c.5467A>T (p.Thr1823Ser)
c.5452A>T (p.Thr1818Ser)
9g.128618000C>ACA375076826SPTAN1c.5528C>A (p.Thr1843Asn)
c.5492C>A (p.Thr1831Asn)
c.4955C>A (p.Thr1652Asn)
c.3115C>A
c.1102C>A
n.720C>A
c.5417C>A (p.Thr1806Asn)
c.5477C>A (p.Thr1826Asn)
c.5432C>A (p.Thr1811Asn)
c.5513C>A (p.Thr1838Asn)
c.5468C>A (p.Thr1823Asn)
c.5453C>A (p.Thr1818Asn)
9g.128618000C>GCA375076828SPTAN1c.5528C>G (p.Thr1843Ser)
c.5492C>G (p.Thr1831Ser)
c.4955C>G (p.Thr1652Ser)
c.3115C>G
c.1102C>G
n.720C>G
c.5417C>G (p.Thr1806Ser)
c.5477C>G (p.Thr1826Ser)
c.5432C>G (p.Thr1811Ser)
c.5513C>G (p.Thr1838Ser)
c.5468C>G (p.Thr1823Ser)
c.5453C>G (p.Thr1818Ser)
9g.128618000C>TCA375076831SPTAN1c.5528C>T (p.Thr1843Ile)
c.5492C>T (p.Thr1831Ile)
c.4955C>T (p.Thr1652Ile)
c.3115C>T
c.1102C>T
n.720C>T
c.5417C>T (p.Thr1806Ile)
c.5477C>T (p.Thr1826Ile)
c.5432C>T (p.Thr1811Ile)
c.5513C>T (p.Thr1838Ile)
c.5468C>T (p.Thr1823Ile)
c.5453C>T (p.Thr1818Ile)
9g.128618001T>ACA467303889SPTAN1c.5529T>A (p.Thr1843=)
c.5493T>A (p.Thr1831=)
c.4956T>A (p.Thr1652=)
c.3116T>A
c.1103T>A
n.721T>A
c.5418T>A (p.Thr1806=)
c.5478T>A (p.Thr1826=)
c.5433T>A (p.Thr1811=)
c.5514T>A (p.Thr1838=)
c.5469T>A (p.Thr1823=)
c.5454T>A (p.Thr1818=)
 ClinVar
9g.128618001T>CCA467303887SPTAN1c.5529T>C (p.Thr1843=)
c.5493T>C (p.Thr1831=)
c.4956T>C (p.Thr1652=)
c.3116T>C
c.1103T>C
n.721T>C
c.5418T>C (p.Thr1806=)
c.5478T>C (p.Thr1826=)
c.5433T>C (p.Thr1811=)
c.5514T>C (p.Thr1838=)
c.5469T>C (p.Thr1823=)
c.5454T>C (p.Thr1818=)
 dbSNP
9g.128618001T>GCA467303885SPTAN1c.5529T>G (p.Thr1843=)
c.5493T>G (p.Thr1831=)
c.4956T>G (p.Thr1652=)
c.3116T>G
c.1103T>G
n.721T>G
c.5418T>G (p.Thr1806=)
c.5478T>G (p.Thr1826=)
c.5433T>G (p.Thr1811=)
c.5514T>G (p.Thr1838=)
c.5469T>G (p.Thr1823=)
c.5454T>G (p.Thr1818=)
9g.128618001T=CA1880364321SPTAN1c.5529T= (p.Thr1843=)
c.5493T= (p.Thr1831=)
c.4956T= (p.Thr1652=)
c.3116T=
c.1103T=
n.721T=
c.5418T= (p.Thr1806=)
c.5478T= (p.Thr1826=)
c.5433T= (p.Thr1811=)
c.5514T= (p.Thr1838=)
c.5469T= (p.Thr1823=)
c.5454T= (p.Thr1818=)
9g.128618002G>ACA375076832SPTAN1c.5530G>A (p.Gly1844Ser)
c.5494G>A (p.Gly1832Ser)
c.4957G>A (p.Gly1653Ser)
c.3117G>A
c.1104G>A
n.722G>A
c.5419G>A (p.Gly1807Ser)
c.5479G>A (p.Gly1827Ser)
c.5434G>A (p.Gly1812Ser)
c.5515G>A (p.Gly1839Ser)
c.5470G>A (p.Gly1824Ser)
c.5455G>A (p.Gly1819Ser)
9g.128618002G>CCA375076833SPTAN1c.5530G>C (p.Gly1844Arg)
c.5494G>C (p.Gly1832Arg)
c.4957G>C (p.Gly1653Arg)
c.3117G>C
c.1104G>C
n.722G>C
c.5419G>C (p.Gly1807Arg)
c.5479G>C (p.Gly1827Arg)
c.5434G>C (p.Gly1812Arg)
c.5515G>C (p.Gly1839Arg)
c.5470G>C (p.Gly1824Arg)
c.5455G>C (p.Gly1819Arg)
9g.128618002G>TCA375076835SPTAN1c.5530G>T (p.Gly1844Cys)
c.5494G>T (p.Gly1832Cys)
c.4957G>T (p.Gly1653Cys)
c.3117G>T
c.1104G>T
n.722G>T
c.5419G>T (p.Gly1807Cys)
c.5479G>T (p.Gly1827Cys)
c.5434G>T (p.Gly1812Cys)
c.5515G>T (p.Gly1839Cys)
c.5470G>T (p.Gly1824Cys)
c.5455G>T (p.Gly1819Cys)
9g.128618003G>ACA375076836SPTAN1c.5531G>A (p.Gly1844Asp)
c.5495G>A (p.Gly1832Asp)
c.4958G>A (p.Gly1653Asp)
c.3118G>A
c.1105G>A
n.723G>A
c.5420G>A (p.Gly1807Asp)
c.5480G>A (p.Gly1827Asp)
c.5435G>A (p.Gly1812Asp)
c.5516G>A (p.Gly1839Asp)
c.5471G>A (p.Gly1824Asp)
c.5456G>A (p.Gly1819Asp)
9g.128618003G>CCA375076839SPTAN1c.5531G>C (p.Gly1844Ala)
c.5495G>C (p.Gly1832Ala)
c.4958G>C (p.Gly1653Ala)
c.3118G>C
c.1105G>C
n.723G>C
c.5420G>C (p.Gly1807Ala)
c.5480G>C (p.Gly1827Ala)
c.5435G>C (p.Gly1812Ala)
c.5516G>C (p.Gly1839Ala)
c.5471G>C (p.Gly1824Ala)
c.5456G>C (p.Gly1819Ala)
9g.128618003G>TCA375076840SPTAN1c.5531G>T (p.Gly1844Val)
c.5495G>T (p.Gly1832Val)
c.4958G>T (p.Gly1653Val)
c.3118G>T
c.1105G>T
n.723G>T
c.5420G>T (p.Gly1807Val)
c.5480G>T (p.Gly1827Val)
c.5435G>T (p.Gly1812Val)
c.5516G>T (p.Gly1839Val)
c.5471G>T (p.Gly1824Val)
c.5456G>T (p.Gly1819Val)
9g.128618004C>ACA467303891SPTAN1c.5532C>A (p.Gly1844=)
c.5496C>A (p.Gly1832=)
c.4959C>A (p.Gly1653=)
c.3119C>A
c.1106C>A
n.724C>A
c.5421C>A (p.Gly1807=)
c.5481C>A (p.Gly1827=)
c.5436C>A (p.Gly1812=)
c.5517C>A (p.Gly1839=)
c.5472C>A (p.Gly1824=)
c.5457C>A (p.Gly1819=)
 dbSNP gnomAD v2 gnomAD v4
9g.128618004C=CA1880364322SPTAN1c.5532C= (p.Gly1844=)
c.5496C= (p.Gly1832=)
c.4959C= (p.Gly1653=)
c.3119C=
c.1106C=
n.724C=
c.5421C= (p.Gly1807=)
c.5481C= (p.Gly1827=)
c.5436C= (p.Gly1812=)
c.5517C= (p.Gly1839=)
c.5472C= (p.Gly1824=)
c.5457C= (p.Gly1819=)
9g.128618004C>GCA467303894SPTAN1c.5532C>G (p.Gly1844=)
c.5496C>G (p.Gly1832=)
c.4959C>G (p.Gly1653=)
c.3119C>G
c.1106C>G
n.724C>G
c.5421C>G (p.Gly1807=)
c.5481C>G (p.Gly1827=)
c.5436C>G (p.Gly1812=)
c.5517C>G (p.Gly1839=)
c.5472C>G (p.Gly1824=)
c.5457C>G (p.Gly1819=)
 ClinVar dbSNP gnomAD v4
9g.128618004C>TCA467303893SPTAN1c.5532C>T (p.Gly1844=)
c.5496C>T (p.Gly1832=)
c.4959C>T (p.Gly1653=)
c.3119C>T
c.1106C>T
n.724C>T
c.5421C>T (p.Gly1807=)
c.5481C>T (p.Gly1827=)
c.5436C>T (p.Gly1812=)
c.5517C>T (p.Gly1839=)
c.5472C>T (p.Gly1824=)
c.5457C>T (p.Gly1819=)
9g.128618005A=CA1880364323SPTAN1c.5533A= (p.Lys1845=)
c.5497A= (p.Lys1833=)
c.4960A= (p.Lys1654=)
c.3120A=
c.1107A=
n.725A=
c.5422A= (p.Lys1808=)
c.5482A= (p.Lys1828=)
c.5437A= (p.Lys1813=)
c.5518A= (p.Lys1840=)
c.5473A= (p.Lys1825=)
c.5458A= (p.Lys1820=)
9g.128618005A>CCA375076841SPTAN1c.5533A>C (p.Lys1845Gln)
c.5497A>C (p.Lys1833Gln)
c.4960A>C (p.Lys1654Gln)
c.3120A>C
c.1107A>C
n.725A>C
c.5422A>C (p.Lys1808Gln)
c.5482A>C (p.Lys1828Gln)
c.5437A>C (p.Lys1813Gln)
c.5518A>C (p.Lys1840Gln)
c.5473A>C (p.Lys1825Gln)
c.5458A>C (p.Lys1820Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.128618005A>GCA375076843SPTAN1c.5533A>G (p.Lys1845Glu)
c.5497A>G (p.Lys1833Glu)
c.4960A>G (p.Lys1654Glu)
c.3120A>G
c.1107A>G
n.725A>G
c.5422A>G (p.Lys1808Glu)
c.5482A>G (p.Lys1828Glu)
c.5437A>G (p.Lys1813Glu)
c.5518A>G (p.Lys1840Glu)
c.5473A>G (p.Lys1825Glu)
c.5458A>G (p.Lys1820Glu)
 gnomAD v4
9g.128618005A>TCA375076846SPTAN1c.5533A>T (p.Lys1845Ter)
c.5497A>T (p.Lys1833Ter)
c.4960A>T (p.Lys1654Ter)
c.3120A>T
c.1107A>T
n.725A>T
c.5422A>T (p.Lys1808Ter)
c.5482A>T (p.Lys1828Ter)
c.5437A>T (p.Lys1813Ter)
c.5518A>T (p.Lys1840Ter)
c.5473A>T (p.Lys1825Ter)
c.5458A>T (p.Lys1820Ter)
9g.128618006A=CA1880364324SPTAN1c.5534A= (p.Lys1845=)
c.5498A= (p.Lys1833=)
c.4961A= (p.Lys1654=)
c.3121A=
c.1108A=
n.726A=
c.5423A= (p.Lys1808=)
c.5483A= (p.Lys1828=)
c.5438A= (p.Lys1813=)
c.5519A= (p.Lys1840=)
c.5474A= (p.Lys1825=)
c.5459A= (p.Lys1820=)
9g.128618006A>CCA375076849SPTAN1c.5534A>C (p.Lys1845Thr)
c.5498A>C (p.Lys1833Thr)
c.4961A>C (p.Lys1654Thr)
c.3121A>C
c.1108A>C
n.726A>C
c.5423A>C (p.Lys1808Thr)
c.5483A>C (p.Lys1828Thr)
c.5438A>C (p.Lys1813Thr)
c.5519A>C (p.Lys1840Thr)
c.5474A>C (p.Lys1825Thr)
c.5459A>C (p.Lys1820Thr)
9g.128618006A>GCA375076855SPTAN1c.5534A>G (p.Lys1845Arg)
c.5498A>G (p.Lys1833Arg)
c.4961A>G (p.Lys1654Arg)
c.3121A>G
c.1108A>G
n.726A>G
c.5423A>G (p.Lys1808Arg)
c.5483A>G (p.Lys1828Arg)
c.5438A>G (p.Lys1813Arg)
c.5519A>G (p.Lys1840Arg)
c.5474A>G (p.Lys1825Arg)
c.5459A>G (p.Lys1820Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128618006A>TCA375076854SPTAN1c.5534A>T (p.Lys1845Met)
c.5498A>T (p.Lys1833Met)
c.4961A>T (p.Lys1654Met)
c.3121A>T
c.1108A>T
n.726A>T
c.5423A>T (p.Lys1808Met)
c.5483A>T (p.Lys1828Met)
c.5438A>T (p.Lys1813Met)
c.5519A>T (p.Lys1840Met)
c.5474A>T (p.Lys1825Met)
c.5459A>T (p.Lys1820Met)
9g.128618007G>ACA467303895SPTAN1c.5535G>A (p.Lys1845=)
c.5499G>A (p.Lys1833=)
c.4962G>A (p.Lys1654=)
c.3122G>A
c.1109G>A
n.727G>A
c.5424G>A (p.Lys1808=)
c.5484G>A (p.Lys1828=)
c.5439G>A (p.Lys1813=)
c.5520G>A (p.Lys1840=)
c.5475G>A (p.Lys1825=)
c.5460G>A (p.Lys1820=)
 gnomAD v4
9g.128618007G>CCA375076857SPTAN1c.5535G>C (p.Lys1845Asn)
c.5499G>C (p.Lys1833Asn)
c.4962G>C (p.Lys1654Asn)
c.3122G>C
c.1109G>C
n.727G>C
c.5424G>C (p.Lys1808Asn)
c.5484G>C (p.Lys1828Asn)
c.5439G>C (p.Lys1813Asn)
c.5520G>C (p.Lys1840Asn)
c.5475G>C (p.Lys1825Asn)
c.5460G>C (p.Lys1820Asn)
9g.128618007G>TCA375076858SPTAN1c.5535G>T (p.Lys1845Asn)
c.5499G>T (p.Lys1833Asn)
c.4962G>T (p.Lys1654Asn)
c.3122G>T
c.1109G>T
n.727G>T
c.5424G>T (p.Lys1808Asn)
c.5484G>T (p.Lys1828Asn)
c.5439G>T (p.Lys1813Asn)
c.5520G>T (p.Lys1840Asn)
c.5475G>T (p.Lys1825Asn)
c.5460G>T (p.Lys1820Asn)
9g.128618008A>CCA375076860SPTAN1c.5536A>C (p.Lys1846Gln)
c.5500A>C (p.Lys1834Gln)
c.4963A>C (p.Lys1655Gln)
c.3123A>C
c.1110A>C
n.728A>C
c.5425A>C (p.Lys1809Gln)
c.5485A>C (p.Lys1829Gln)
c.5440A>C (p.Lys1814Gln)
c.5521A>C (p.Lys1841Gln)
c.5476A>C (p.Lys1826Gln)
c.5461A>C (p.Lys1821Gln)
9g.128618008A>GCA375076870SPTAN1c.5536A>G (p.Lys1846Glu)
c.5500A>G (p.Lys1834Glu)
c.4963A>G (p.Lys1655Glu)
c.3123A>G
c.1110A>G
n.728A>G
c.5425A>G (p.Lys1809Glu)
c.5485A>G (p.Lys1829Glu)
c.5440A>G (p.Lys1814Glu)
c.5521A>G (p.Lys1841Glu)
c.5476A>G (p.Lys1826Glu)
c.5461A>G (p.Lys1821Glu)
 ClinVar dbSNP
9g.128618008A>TCA375076873SPTAN1c.5536A>T (p.Lys1846Ter)
c.5500A>T (p.Lys1834Ter)
c.4963A>T (p.Lys1655Ter)
c.3123A>T
c.1110A>T
n.728A>T
c.5425A>T (p.Lys1809Ter)
c.5485A>T (p.Lys1829Ter)
c.5440A>T (p.Lys1814Ter)
c.5521A>T (p.Lys1841Ter)
c.5476A>T (p.Lys1826Ter)
c.5461A>T (p.Lys1821Ter)
9g.128618009A=CA1880364325SPTAN1c.5537A= (p.Lys1846=)
c.5501A= (p.Lys1834=)
c.4964A= (p.Lys1655=)
c.3124A=
c.1111A=
n.729A=
c.5426A= (p.Lys1809=)
c.5486A= (p.Lys1829=)
c.5441A= (p.Lys1814=)
c.5522A= (p.Lys1841=)
c.5477A= (p.Lys1826=)
c.5462A= (p.Lys1821=)
9g.128618009A>CCA375076876SPTAN1c.5537A>C (p.Lys1846Thr)
c.5501A>C (p.Lys1834Thr)
c.4964A>C (p.Lys1655Thr)
c.3124A>C
c.1111A>C
n.729A>C
c.5426A>C (p.Lys1809Thr)
c.5486A>C (p.Lys1829Thr)
c.5441A>C (p.Lys1814Thr)
c.5522A>C (p.Lys1841Thr)
c.5477A>C (p.Lys1826Thr)
c.5462A>C (p.Lys1821Thr)
9g.128618009A>GCA375076878SPTAN1c.5537A>G (p.Lys1846Arg)
c.5501A>G (p.Lys1834Arg)
c.4964A>G (p.Lys1655Arg)
c.3124A>G
c.1111A>G
n.729A>G
c.5426A>G (p.Lys1809Arg)
c.5486A>G (p.Lys1829Arg)
c.5441A>G (p.Lys1814Arg)
c.5522A>G (p.Lys1841Arg)
c.5477A>G (p.Lys1826Arg)
c.5462A>G (p.Lys1821Arg)
 dbSNP
9g.128618009A>TCA375076880SPTAN1c.5537A>T (p.Lys1846Met)
c.5501A>T (p.Lys1834Met)
c.4964A>T (p.Lys1655Met)
c.3124A>T
c.1111A>T
n.729A>T
c.5426A>T (p.Lys1809Met)
c.5486A>T (p.Lys1829Met)
c.5441A>T (p.Lys1814Met)
c.5522A>T (p.Lys1841Met)
c.5477A>T (p.Lys1826Met)
c.5462A>T (p.Lys1821Met)
9g.128618010G>ACA467303898SPTAN1c.5538G>A (p.Lys1846=)
c.5502G>A (p.Lys1834=)
c.4965G>A (p.Lys1655=)
c.3125G>A
c.1112G>A
n.730G>A
c.5427G>A (p.Lys1809=)
c.5487G>A (p.Lys1829=)
c.5442G>A (p.Lys1814=)
c.5523G>A (p.Lys1841=)
c.5478G>A (p.Lys1826=)
c.5463G>A (p.Lys1821=)
9g.128618010G>CCA375076883SPTAN1c.5538G>C (p.Lys1846Asn)
c.5502G>C (p.Lys1834Asn)
c.4965G>C (p.Lys1655Asn)
c.3125G>C
c.1112G>C
n.730G>C
c.5427G>C (p.Lys1809Asn)
c.5487G>C (p.Lys1829Asn)
c.5442G>C (p.Lys1814Asn)
c.5523G>C (p.Lys1841Asn)
c.5478G>C (p.Lys1826Asn)
c.5463G>C (p.Lys1821Asn)
9g.128618010G>TCA375076886SPTAN1c.5538G>T (p.Lys1846Asn)
c.5502G>T (p.Lys1834Asn)
c.4965G>T (p.Lys1655Asn)
c.3125G>T
c.1112G>T
n.730G>T
c.5427G>T (p.Lys1809Asn)
c.5487G>T (p.Lys1829Asn)
c.5442G>T (p.Lys1814Asn)
c.5523G>T (p.Lys1841Asn)
c.5478G>T (p.Lys1826Asn)
c.5463G>T (p.Lys1821Asn)
9g.128618011C>ACA375076891SPTAN1c.5539C>A (p.Leu1847Met)
c.5503C>A (p.Leu1835Met)
c.4966C>A (p.Leu1656Met)
c.3126C>A
c.1113C>A
n.731C>A
c.5428C>A (p.Leu1810Met)
c.5488C>A (p.Leu1830Met)
c.5443C>A (p.Leu1815Met)
c.5524C>A (p.Leu1842Met)
c.5479C>A (p.Leu1827Met)
c.5464C>A (p.Leu1822Met)
 gnomAD v4
9g.128618011C=CA1880364326SPTAN1c.5539C= (p.Leu1847=)
c.5503C= (p.Leu1835=)
c.4966C= (p.Leu1656=)
c.3126C=
c.1113C=
n.731C=
c.5428C= (p.Leu1810=)
c.5488C= (p.Leu1830=)
c.5443C= (p.Leu1815=)
c.5524C= (p.Leu1842=)
c.5479C= (p.Leu1827=)
c.5464C= (p.Leu1822=)
9g.128618011C>GCA5265487SPTAN1c.5539C>G (p.Leu1847Val)
c.5503C>G (p.Leu1835Val)
c.4966C>G (p.Leu1656Val)
c.3126C>G
c.1113C>G
n.731C>G
c.5428C>G (p.Leu1810Val)
c.5488C>G (p.Leu1830Val)
c.5443C>G (p.Leu1815Val)
c.5524C>G (p.Leu1842Val)
c.5479C>G (p.Leu1827Val)
c.5464C>G (p.Leu1822Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128618011C>TCA5265488SPTAN1c.5539C>T (p.Leu1847=)
c.5503C>T (p.Leu1835=)
c.4966C>T (p.Leu1656=)
c.3126C>T
c.1113C>T
n.731C>T
c.5428C>T (p.Leu1810=)
c.5488C>T (p.Leu1830=)
c.5443C>T (p.Leu1815=)
c.5524C>T (p.Leu1842=)
c.5479C>T (p.Leu1827=)
c.5464C>T (p.Leu1822=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128618012T>ACA375076895SPTAN1c.5540T>A (p.Leu1847Gln)
c.5504T>A (p.Leu1835Gln)
c.4967T>A (p.Leu1656Gln)
c.3127T>A
c.1114T>A
n.732T>A
c.5429T>A (p.Leu1810Gln)
c.5489T>A (p.Leu1830Gln)
c.5444T>A (p.Leu1815Gln)
c.5525T>A (p.Leu1842Gln)
c.5480T>A (p.Leu1827Gln)
c.5465T>A (p.Leu1822Gln)
9g.128618012T>CCA375076896SPTAN1c.5540T>C (p.Leu1847Pro)
c.5504T>C (p.Leu1835Pro)
c.4967T>C (p.Leu1656Pro)
c.3127T>C
c.1114T>C
n.732T>C
c.5429T>C (p.Leu1810Pro)
c.5489T>C (p.Leu1830Pro)
c.5444T>C (p.Leu1815Pro)
c.5525T>C (p.Leu1842Pro)
c.5480T>C (p.Leu1827Pro)
c.5465T>C (p.Leu1822Pro)
9g.128618012T>GCA375076899SPTAN1c.5540T>G (p.Leu1847Arg)
c.5504T>G (p.Leu1835Arg)
c.4967T>G (p.Leu1656Arg)
c.3127T>G
c.1114T>G
n.732T>G
c.5429T>G (p.Leu1810Arg)
c.5489T>G (p.Leu1830Arg)
c.5444T>G (p.Leu1815Arg)
c.5525T>G (p.Leu1842Arg)
c.5480T>G (p.Leu1827Arg)
c.5465T>G (p.Leu1822Arg)
9g.128618013G>ACA467303903SPTAN1c.5541G>A (p.Leu1847=)
c.5505G>A (p.Leu1835=)
c.4968G>A (p.Leu1656=)
c.3128G>A
c.1115G>A
n.733G>A
c.5430G>A (p.Leu1810=)
c.5490G>A (p.Leu1830=)
c.5445G>A (p.Leu1815=)
c.5526G>A (p.Leu1842=)
c.5481G>A (p.Leu1827=)
c.5466G>A (p.Leu1822=)
9g.128618013G>CCA467303905SPTAN1c.5541G>C (p.Leu1847=)
c.5505G>C (p.Leu1835=)
c.4968G>C (p.Leu1656=)
c.3128G>C
c.1115G>C
n.733G>C
c.5430G>C (p.Leu1810=)
c.5490G>C (p.Leu1830=)
c.5445G>C (p.Leu1815=)
c.5526G>C (p.Leu1842=)
c.5481G>C (p.Leu1827=)
c.5466G>C (p.Leu1822=)
9g.128618013G>TCA467303907SPTAN1c.5541G>T (p.Leu1847=)
c.5505G>T (p.Leu1835=)
c.4968G>T (p.Leu1656=)
c.3128G>T
c.1115G>T
n.733G>T
c.5430G>T (p.Leu1810=)
c.5490G>T (p.Leu1830=)
c.5445G>T (p.Leu1815=)
c.5526G>T (p.Leu1842=)
c.5481G>T (p.Leu1827=)
c.5466G>T (p.Leu1822=)
9g.128618014T>ACA375076903SPTAN1c.5542T>A (p.Ser1848Thr)
c.5506T>A (p.Ser1836Thr)
c.4969T>A (p.Ser1657Thr)
c.3129T>A
c.1116T>A
n.734T>A
c.5431T>A (p.Ser1811Thr)
c.5491T>A (p.Ser1831Thr)
c.5446T>A (p.Ser1816Thr)
c.5527T>A (p.Ser1843Thr)
c.5482T>A (p.Ser1828Thr)
c.5467T>A (p.Ser1823Thr)
9g.128618014T>CCA375076905SPTAN1c.5542T>C (p.Ser1848Pro)
c.5506T>C (p.Ser1836Pro)
c.4969T>C (p.Ser1657Pro)
c.3129T>C
c.1116T>C
n.734T>C
c.5431T>C (p.Ser1811Pro)
c.5491T>C (p.Ser1831Pro)
c.5446T>C (p.Ser1816Pro)
c.5527T>C (p.Ser1843Pro)
c.5482T>C (p.Ser1828Pro)
c.5467T>C (p.Ser1823Pro)
9g.128618014T>GCA375076907SPTAN1c.5542T>G (p.Ser1848Ala)
c.5506T>G (p.Ser1836Ala)
c.4969T>G (p.Ser1657Ala)
c.3129T>G
c.1116T>G
n.734T>G
c.5431T>G (p.Ser1811Ala)
c.5491T>G (p.Ser1831Ala)
c.5446T>G (p.Ser1816Ala)
c.5527T>G (p.Ser1843Ala)
c.5482T>G (p.Ser1828Ala)
c.5467T>G (p.Ser1823Ala)
9g.128618015C>ACA375076909SPTAN1c.5543C>A (p.Ser1848Tyr)
c.5507C>A (p.Ser1836Tyr)
c.4970C>A (p.Ser1657Tyr)
c.3130C>A
c.1117C>A
n.735C>A
c.5432C>A (p.Ser1811Tyr)
c.5492C>A (p.Ser1831Tyr)
c.5447C>A (p.Ser1816Tyr)
c.5528C>A (p.Ser1843Tyr)
c.5483C>A (p.Ser1828Tyr)
c.5468C>A (p.Ser1823Tyr)
9g.128618015C>GCA375076912SPTAN1c.5543C>G (p.Ser1848Cys)
c.5507C>G (p.Ser1836Cys)
c.4970C>G (p.Ser1657Cys)
c.3130C>G
c.1117C>G
n.735C>G
c.5432C>G (p.Ser1811Cys)
c.5492C>G (p.Ser1831Cys)
c.5447C>G (p.Ser1816Cys)
c.5528C>G (p.Ser1843Cys)
c.5483C>G (p.Ser1828Cys)
c.5468C>G (p.Ser1823Cys)
9g.128618015C>TCA375076914SPTAN1c.5543C>T (p.Ser1848Phe)
c.5507C>T (p.Ser1836Phe)
c.4970C>T (p.Ser1657Phe)
c.3130C>T
c.1117C>T
n.735C>T
c.5432C>T (p.Ser1811Phe)
c.5492C>T (p.Ser1831Phe)
c.5447C>T (p.Ser1816Phe)
c.5528C>T (p.Ser1843Phe)
c.5483C>T (p.Ser1828Phe)
c.5468C>T (p.Ser1823Phe)
9g.128618016C>ACA467303910SPTAN1c.5544C>A (p.Ser1848=)
c.5508C>A (p.Ser1836=)
c.4971C>A (p.Ser1657=)
c.3131C>A
c.1118C>A
n.736C>A
c.5433C>A (p.Ser1811=)
c.5493C>A (p.Ser1831=)
c.5448C>A (p.Ser1816=)
c.5529C>A (p.Ser1843=)
c.5484C>A (p.Ser1828=)
c.5469C>A (p.Ser1823=)
9g.128618016C=CA1880364327SPTAN1c.5544C= (p.Ser1848=)
c.5508C= (p.Ser1836=)
c.4971C= (p.Ser1657=)
c.3131C=
c.1118C=
n.736C=
c.5433C= (p.Ser1811=)
c.5493C= (p.Ser1831=)
c.5448C= (p.Ser1816=)
c.5529C= (p.Ser1843=)
c.5484C= (p.Ser1828=)
c.5469C= (p.Ser1823=)
9g.128618016C>GCA5265489SPTAN1c.5544C>G (p.Ser1848=)
c.5508C>G (p.Ser1836=)
c.4971C>G (p.Ser1657=)
c.3131C>G
c.1118C>G
n.736C>G
c.5433C>G (p.Ser1811=)
c.5493C>G (p.Ser1831=)
c.5448C>G (p.Ser1816=)
c.5529C>G (p.Ser1843=)
c.5484C>G (p.Ser1828=)
c.5469C>G (p.Ser1823=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128618016C>TCA16606267SPTAN1c.5544C>T (p.Ser1848=)
c.5508C>T (p.Ser1836=)
c.4971C>T (p.Ser1657=)
c.3131C>T
c.1118C>T
n.736C>T
c.5433C>T (p.Ser1811=)
c.5493C>T (p.Ser1831=)
c.5448C>T (p.Ser1816=)
c.5529C>T (p.Ser1843=)
c.5484C>T (p.Ser1828=)
c.5469C>T (p.Ser1823=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128618017G>ACA5265490SPTAN1c.5545G>A (p.Asp1849Asn)
c.5509G>A (p.Asp1837Asn)
c.4972G>A (p.Asp1658Asn)
c.3132G>A
c.1119G>A
n.737G>A
c.5434G>A (p.Asp1812Asn)
c.5494G>A (p.Asp1832Asn)
c.5449G>A (p.Asp1817Asn)
c.5530G>A (p.Asp1844Asn)
c.5485G>A (p.Asp1829Asn)
c.5470G>A (p.Asp1824Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128618017G>CCA375076918SPTAN1c.5545G>C (p.Asp1849His)
c.5509G>C (p.Asp1837His)
c.4972G>C (p.Asp1658His)
c.3132G>C
c.1119G>C
n.737G>C
c.5434G>C (p.Asp1812His)
c.5494G>C (p.Asp1832His)
c.5449G>C (p.Asp1817His)
c.5530G>C (p.Asp1844His)
c.5485G>C (p.Asp1829His)
c.5470G>C (p.Asp1824His)
9g.128618017G=CA1880364328SPTAN1c.5545G= (p.Asp1849=)
c.5509G= (p.Asp1837=)
c.4972G= (p.Asp1658=)
c.3132G=
c.1119G=
n.737G=
c.5434G= (p.Asp1812=)
c.5494G= (p.Asp1832=)
c.5449G= (p.Asp1817=)
c.5530G= (p.Asp1844=)
c.5485G= (p.Asp1829=)
c.5470G= (p.Asp1824=)
9g.128618017G>TCA5265491SPTAN1c.5545G>T (p.Asp1849Tyr)
c.5509G>T (p.Asp1837Tyr)
c.4972G>T (p.Asp1658Tyr)
c.3132G>T
c.1119G>T
n.737G>T
c.5434G>T (p.Asp1812Tyr)
c.5494G>T (p.Asp1832Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5530G>T (p.Asp1844Tyr)
c.5485G>T (p.Asp1829Tyr)
c.5470G>T (p.Asp1824Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128618018A>CCA375076926SPTAN1c.5546A>C (p.Asp1849Ala)
c.5510A>C (p.Asp1837Ala)
c.4973A>C (p.Asp1658Ala)
c.3133A>C
c.1120A>C
n.738A>C
c.5435A>C (p.Asp1812Ala)
c.5495A>C (p.Asp1832Ala)
c.5450A>C (p.Asp1817Ala)
c.5531A>C (p.Asp1844Ala)
c.5486A>C (p.Asp1829Ala)
c.5471A>C (p.Asp1824Ala)
9g.128618018A>GCA375076923SPTAN1c.5546A>G (p.Asp1849Gly)
c.5510A>G (p.Asp1837Gly)
c.4973A>G (p.Asp1658Gly)
c.3133A>G
c.1120A>G
n.738A>G
c.5435A>G (p.Asp1812Gly)
c.5495A>G (p.Asp1832Gly)
c.5450A>G (p.Asp1817Gly)
c.5531A>G (p.Asp1844Gly)
c.5486A>G (p.Asp1829Gly)
c.5471A>G (p.Asp1824Gly)
9g.128618018A>TCA375076922SPTAN1c.5546A>T (p.Asp1849Val)
c.5510A>T (p.Asp1837Val)
c.4973A>T (p.Asp1658Val)
c.3133A>T
c.1120A>T
n.738A>T
c.5435A>T (p.Asp1812Val)
c.5495A>T (p.Asp1832Val)
c.5450A>T (p.Asp1817Val)
c.5531A>T (p.Asp1844Val)
c.5486A>T (p.Asp1829Val)
c.5471A>T (p.Asp1824Val)
9g.128618019T>ACA375076927SPTAN1c.5547T>A (p.Asp1849Glu)
c.5511T>A (p.Asp1837Glu)
c.4974T>A (p.Asp1658Glu)
c.3134T>A
c.1121T>A
n.739T>A
c.5436T>A (p.Asp1812Glu)
c.5496T>A (p.Asp1832Glu)
c.5451T>A (p.Asp1817Glu)
c.5532T>A (p.Asp1844Glu)
c.5487T>A (p.Asp1829Glu)
c.5472T>A (p.Asp1824Glu)
9g.128618019T>CCA467303912SPTAN1c.5547T>C (p.Asp1849=)
c.5511T>C (p.Asp1837=)
c.4974T>C (p.Asp1658=)
c.3134T>C
c.1121T>C
n.739T>C
c.5436T>C (p.Asp1812=)
c.5496T>C (p.Asp1832=)
c.5451T>C (p.Asp1817=)
c.5532T>C (p.Asp1844=)
c.5487T>C (p.Asp1829=)
c.5472T>C (p.Asp1824=)
 gnomAD v4
9g.128618019T>GCA375076930SPTAN1c.5547T>G (p.Asp1849Glu)
c.5511T>G (p.Asp1837Glu)
c.4974T>G (p.Asp1658Glu)
c.3134T>G
c.1121T>G
n.739T>G
c.5436T>G (p.Asp1812Glu)
c.5496T>G (p.Asp1832Glu)
c.5451T>G (p.Asp1817Glu)
c.5532T>G (p.Asp1844Glu)
c.5487T>G (p.Asp1829Glu)
c.5472T>G (p.Asp1824Glu)
9g.128618020G>ACA375076933SPTAN1c.5548G>A (p.Asp1850Asn)
c.5512G>A (p.Asp1838Asn)
c.4975G>A (p.Asp1659Asn)
c.3135G>A
c.1122G>A
n.740G>A
c.5437G>A (p.Asp1813Asn)
c.5497G>A (p.Asp1833Asn)
c.5452G>A (p.Asp1818Asn)
c.5533G>A (p.Asp1845Asn)
c.5488G>A (p.Asp1830Asn)
c.5473G>A (p.Asp1825Asn)
9g.128618020G>CCA375076935SPTAN1c.5548G>C (p.Asp1850His)
c.5512G>C (p.Asp1838His)
c.4975G>C (p.Asp1659His)
c.3135G>C
c.1122G>C
n.740G>C
c.5437G>C (p.Asp1813His)
c.5497G>C (p.Asp1833His)
c.5452G>C (p.Asp1818His)
c.5533G>C (p.Asp1845His)
c.5488G>C (p.Asp1830His)
c.5473G>C (p.Asp1825His)
9g.128618020G>TCA375076938SPTAN1c.5548G>T (p.Asp1850Tyr)
c.5512G>T (p.Asp1838Tyr)
c.4975G>T (p.Asp1659Tyr)
c.3135G>T
c.1122G>T
n.740G>T
c.5437G>T (p.Asp1813Tyr)
c.5497G>T (p.Asp1833Tyr)
c.5452G>T (p.Asp1818Tyr)
c.5533G>T (p.Asp1845Tyr)
c.5488G>T (p.Asp1830Tyr)
c.5473G>T (p.Asp1825Tyr)
9g.128618020_128618023delinsGACACA1880364329SPTAN1c.5548_5551delinsGACA (p.Asp1850=)
c.5512_5515delinsGACA (p.Asp1838=)
c.4975_4978delinsGACA (p.Asp1659=)
c.3135_3138delinsGACA
c.1122_1125delinsGACA
n.740_743delinsGACA
c.5437_5440delinsGACA (p.Asp1813=)
c.5497_5500delinsGACA (p.Asp1833=)
c.5452_5455delinsGACA (p.Asp1818=)
c.5533_5536delinsGACA (p.Asp1845=)
c.5488_5491delinsGACA (p.Asp1830=)
c.5473_5476delinsGACA (p.Asp1825=)
9g.128618021A>CCA375076940SPTAN1c.5549A>C (p.Asp1850Ala)
c.5513A>C (p.Asp1838Ala)
c.4976A>C (p.Asp1659Ala)
c.3136A>C
c.1123A>C
n.741A>C
c.5438A>C (p.Asp1813Ala)
c.5498A>C (p.Asp1833Ala)
c.5453A>C (p.Asp1818Ala)
c.5534A>C (p.Asp1845Ala)
c.5489A>C (p.Asp1830Ala)
c.5474A>C (p.Asp1825Ala)
9g.128618021A>GCA375076943SPTAN1c.5549A>G (p.Asp1850Gly)
c.5513A>G (p.Asp1838Gly)
c.4976A>G (p.Asp1659Gly)
c.3136A>G
c.1123A>G
n.741A>G
c.5438A>G (p.Asp1813Gly)
c.5498A>G (p.Asp1833Gly)
c.5453A>G (p.Asp1818Gly)
c.5534A>G (p.Asp1845Gly)
c.5489A>G (p.Asp1830Gly)
c.5474A>G (p.Asp1825Gly)
9g.128618021A>TCA375076946SPTAN1c.5549A>T (p.Asp1850Val)
c.5513A>T (p.Asp1838Val)
c.4976A>T (p.Asp1659Val)
c.3136A>T
c.1123A>T
n.741A>T
c.5438A>T (p.Asp1813Val)
c.5498A>T (p.Asp1833Val)
c.5453A>T (p.Asp1818Val)
c.5534A>T (p.Asp1845Val)
c.5489A>T (p.Asp1830Val)
c.5474A>T (p.Asp1825Val)
9g.128618024_128618026delCA1880364330SPTAN1c.5552_5554del (p.Asn1851del)
c.5516_5518del (p.Asn1839del)
c.4979_4981del (p.Asn1660del)
c.3139_3141del
c.1126_1128del
n.744_746del
c.5441_5443del (p.Asn1814del)
c.5501_5503del (p.Asn1834del)
c.5456_5458del (p.Asn1819del)
c.5537_5539del (p.Asn1846del)
c.5492_5494del (p.Asn1831del)
c.5477_5479del (p.Asn1826del)
 dbSNP gnomAD v4
9g.128618022C>ACA375076948SPTAN1c.5550C>A (p.Asp1850Glu)
c.5514C>A (p.Asp1838Glu)
c.4977C>A (p.Asp1659Glu)
c.3137C>A
c.1124C>A
n.742C>A
c.5439C>A (p.Asp1813Glu)
c.5499C>A (p.Asp1833Glu)
c.5454C>A (p.Asp1818Glu)
c.5535C>A (p.Asp1845Glu)
c.5490C>A (p.Asp1830Glu)
c.5475C>A (p.Asp1825Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.128618022C=CA1880364331SPTAN1c.5550C= (p.Asp1850=)
c.5514C= (p.Asp1838=)
c.4977C= (p.Asp1659=)
c.3137C=
c.1124C=
n.742C=
c.5439C= (p.Asp1813=)
c.5499C= (p.Asp1833=)
c.5454C= (p.Asp1818=)
c.5535C= (p.Asp1845=)
c.5490C= (p.Asp1830=)
c.5475C= (p.Asp1825=)
9g.128618022C>GCA375076951SPTAN1c.5550C>G (p.Asp1850Glu)
c.5514C>G (p.Asp1838Glu)
c.4977C>G (p.Asp1659Glu)
c.3137C>G
c.1124C>G
n.742C>G
c.5439C>G (p.Asp1813Glu)
c.5499C>G (p.Asp1833Glu)
c.5454C>G (p.Asp1818Glu)
c.5535C>G (p.Asp1845Glu)
c.5490C>G (p.Asp1830Glu)
c.5475C>G (p.Asp1825Glu)
9g.128618022C>TCA467303917SPTAN1c.5550C>T (p.Asp1850=)
c.5514C>T (p.Asp1838=)
c.4977C>T (p.Asp1659=)
c.3137C>T
c.1124C>T
n.742C>T
c.5439C>T (p.Asp1813=)
c.5499C>T (p.Asp1833=)
c.5454C>T (p.Asp1818=)
c.5535C>T (p.Asp1845=)
c.5490C>T (p.Asp1830=)
c.5475C>T (p.Asp1825=)
 dbSNP gnomAD v4
9g.128618023A>CCA375076954SPTAN1c.5551A>C (p.Asn1851His)
c.5515A>C (p.Asn1839His)
c.4978A>C (p.Asn1660His)
c.3138A>C
c.1125A>C
n.743A>C
c.5440A>C (p.Asn1814His)
c.5500A>C (p.Asn1834His)
c.5455A>C (p.Asn1819His)
c.5536A>C (p.Asn1846His)
c.5491A>C (p.Asn1831His)
c.5476A>C (p.Asn1826His)
9g.128618023A>GCA375076955SPTAN1c.5551A>G (p.Asn1851Asp)
c.5515A>G (p.Asn1839Asp)
c.4978A>G (p.Asn1660Asp)
c.3138A>G
c.1125A>G
n.743A>G
c.5440A>G (p.Asn1814Asp)
c.5500A>G (p.Asn1834Asp)
c.5455A>G (p.Asn1819Asp)
c.5536A>G (p.Asn1846Asp)
c.5491A>G (p.Asn1831Asp)
c.5476A>G (p.Asn1826Asp)
9g.128618023A>TCA375076957SPTAN1c.5551A>T (p.Asn1851Tyr)
c.5515A>T (p.Asn1839Tyr)
c.4978A>T (p.Asn1660Tyr)
c.3138A>T
c.1125A>T
n.743A>T
c.5440A>T (p.Asn1814Tyr)
c.5500A>T (p.Asn1834Tyr)
c.5455A>T (p.Asn1819Tyr)
c.5536A>T (p.Asn1846Tyr)
c.5491A>T (p.Asn1831Tyr)
c.5476A>T (p.Asn1826Tyr)
9g.128618024A>CCA375076964SPTAN1c.5552A>C (p.Asn1851Thr)
c.5516A>C (p.Asn1839Thr)
c.4979A>C (p.Asn1660Thr)
c.3139A>C
c.1126A>C
n.744A>C
c.5441A>C (p.Asn1814Thr)
c.5501A>C (p.Asn1834Thr)
c.5456A>C (p.Asn1819Thr)
c.5537A>C (p.Asn1846Thr)
c.5492A>C (p.Asn1831Thr)
c.5477A>C (p.Asn1826Thr)
 gnomAD v4
9g.128618024A>GCA375076962SPTAN1c.5552A>G (p.Asn1851Ser)
c.5516A>G (p.Asn1839Ser)
c.4979A>G (p.Asn1660Ser)
c.3139A>G
c.1126A>G
n.744A>G
c.5441A>G (p.Asn1814Ser)
c.5501A>G (p.Asn1834Ser)
c.5456A>G (p.Asn1819Ser)
c.5537A>G (p.Asn1846Ser)
c.5492A>G (p.Asn1831Ser)
c.5477A>G (p.Asn1826Ser)
 gnomAD v4
9g.128618024A>TCA375076960SPTAN1c.5552A>T (p.Asn1851Ile)
c.5516A>T (p.Asn1839Ile)
c.4979A>T (p.Asn1660Ile)
c.3139A>T
c.1126A>T
n.744A>T
c.5441A>T (p.Asn1814Ile)
c.5501A>T (p.Asn1834Ile)
c.5456A>T (p.Asn1819Ile)
c.5537A>T (p.Asn1846Ile)
c.5492A>T (p.Asn1831Ile)
c.5477A>T (p.Asn1826Ile)
9g.128618025C>ACA375076967SPTAN1c.5553C>A (p.Asn1851Lys)
c.5517C>A (p.Asn1839Lys)
c.4980C>A (p.Asn1660Lys)
c.3140C>A
c.1127C>A
n.745C>A
c.5442C>A (p.Asn1814Lys)
c.5502C>A (p.Asn1834Lys)
c.5457C>A (p.Asn1819Lys)
c.5538C>A (p.Asn1846Lys)
c.5493C>A (p.Asn1831Lys)
c.5478C>A (p.Asn1826Lys)
 ClinVar
9g.128618025C>GCA375076966SPTAN1c.5553C>G (p.Asn1851Lys)
c.5517C>G (p.Asn1839Lys)
c.4980C>G (p.Asn1660Lys)
c.3140C>G
c.1127C>G
n.745C>G
c.5442C>G (p.Asn1814Lys)
c.5502C>G (p.Asn1834Lys)
c.5457C>G (p.Asn1819Lys)
c.5538C>G (p.Asn1846Lys)
c.5493C>G (p.Asn1831Lys)
c.5478C>G (p.Asn1826Lys)
9g.128618025C>TCA467303920SPTAN1c.5553C>T (p.Asn1851=)
c.5517C>T (p.Asn1839=)
c.4980C>T (p.Asn1660=)
c.3140C>T
c.1127C>T
n.745C>T
c.5442C>T (p.Asn1814=)
c.5502C>T (p.Asn1834=)
c.5457C>T (p.Asn1819=)
c.5538C>T (p.Asn1846=)
c.5493C>T (p.Asn1831=)
c.5478C>T (p.Asn1826=)
9g.128618026A=CA1880364332SPTAN1c.5554A= (p.Thr1852=)
c.5518A= (p.Thr1840=)
c.4981A= (p.Thr1661=)
c.3141A=
c.1128A=
n.746A=
c.5443A= (p.Thr1815=)
c.5503A= (p.Thr1835=)
c.5458A= (p.Thr1820=)
c.5539A= (p.Thr1847=)
c.5494A= (p.Thr1832=)
c.5479A= (p.Thr1827=)
9g.128618026A>CCA375076972SPTAN1c.5554A>C (p.Thr1852Pro)
c.5518A>C (p.Thr1840Pro)
c.4981A>C (p.Thr1661Pro)
c.3141A>C
c.1128A>C
n.746A>C
c.5443A>C (p.Thr1815Pro)
c.5503A>C (p.Thr1835Pro)
c.5458A>C (p.Thr1820Pro)
c.5539A>C (p.Thr1847Pro)
c.5494A>C (p.Thr1832Pro)
c.5479A>C (p.Thr1827Pro)
 dbSNP
9g.128618026A>GCA375076975SPTAN1c.5554A>G (p.Thr1852Ala)
c.5518A>G (p.Thr1840Ala)
c.4981A>G (p.Thr1661Ala)
c.3141A>G
c.1128A>G
n.746A>G
c.5443A>G (p.Thr1815Ala)
c.5503A>G (p.Thr1835Ala)
c.5458A>G (p.Thr1820Ala)
c.5539A>G (p.Thr1847Ala)
c.5494A>G (p.Thr1832Ala)
c.5479A>G (p.Thr1827Ala)
9g.128618026A>TCA375076978SPTAN1c.5554A>T (p.Thr1852Ser)
c.5518A>T (p.Thr1840Ser)
c.4981A>T (p.Thr1661Ser)
c.3141A>T
c.1128A>T
n.746A>T
c.5443A>T (p.Thr1815Ser)
c.5503A>T (p.Thr1835Ser)
c.5458A>T (p.Thr1820Ser)
c.5539A>T (p.Thr1847Ser)
c.5494A>T (p.Thr1832Ser)
c.5479A>T (p.Thr1827Ser)
9g.128618027C>ACA375076979SPTAN1c.5555C>A (p.Thr1852Asn)
c.5519C>A (p.Thr1840Asn)
c.4982C>A (p.Thr1661Asn)
c.3142C>A
c.1129C>A
n.747C>A
c.5444C>A (p.Thr1815Asn)
c.5504C>A (p.Thr1835Asn)
c.5459C>A (p.Thr1820Asn)
c.5540C>A (p.Thr1847Asn)
c.5495C>A (p.Thr1832Asn)
c.5480C>A (p.Thr1827Asn)
 dbSNP gnomAD v3 gnomAD v4
9g.128618027C=CA1880364333SPTAN1c.5555C= (p.Thr1852=)
c.5519C= (p.Thr1840=)
c.4982C= (p.Thr1661=)
c.3142C=
c.1129C=
n.747C=
c.5444C= (p.Thr1815=)
c.5504C= (p.Thr1835=)
c.5459C= (p.Thr1820=)
c.5540C= (p.Thr1847=)
c.5495C= (p.Thr1832=)
c.5480C= (p.Thr1827=)
9g.128618027C>GCA375076981SPTAN1c.5555C>G (p.Thr1852Ser)
c.5519C>G (p.Thr1840Ser)
c.4982C>G (p.Thr1661Ser)
c.3142C>G
c.1129C>G
n.747C>G
c.5444C>G (p.Thr1815Ser)
c.5504C>G (p.Thr1835Ser)
c.5459C>G (p.Thr1820Ser)
c.5540C>G (p.Thr1847Ser)
c.5495C>G (p.Thr1832Ser)
c.5480C>G (p.Thr1827Ser)
9g.128618027C>TCA375076983SPTAN1c.5555C>T (p.Thr1852Ile)
c.5519C>T (p.Thr1840Ile)
c.4982C>T (p.Thr1661Ile)
c.3142C>T
c.1129C>T
n.747C>T
c.5444C>T (p.Thr1815Ile)
c.5504C>T (p.Thr1835Ile)
c.5459C>T (p.Thr1820Ile)
c.5540C>T (p.Thr1847Ile)
c.5495C>T (p.Thr1832Ile)
c.5480C>T (p.Thr1827Ile)
9g.128618028C>ACA467303921SPTAN1c.5556C>A (p.Thr1852=)
c.5520C>A (p.Thr1840=)
c.4983C>A (p.Thr1661=)
c.3143C>A
c.1130C>A
n.748C>A
c.5445C>A (p.Thr1815=)
c.5505C>A (p.Thr1835=)
c.5460C>A (p.Thr1820=)
c.5541C>A (p.Thr1847=)
c.5496C>A (p.Thr1832=)
c.5481C>A (p.Thr1827=)
9g.128618028C=CA1880364334SPTAN1c.5556C= (p.Thr1852=)
c.5520C= (p.Thr1840=)
c.4983C= (p.Thr1661=)
c.3143C=
c.1130C=
n.748C=
c.5445C= (p.Thr1815=)
c.5505C= (p.Thr1835=)
c.5460C= (p.Thr1820=)
c.5541C= (p.Thr1847=)
c.5496C= (p.Thr1832=)
c.5481C= (p.Thr1827=)
9g.128618028C>GCA467303923SPTAN1c.5556C>G (p.Thr1852=)
c.5520C>G (p.Thr1840=)
c.4983C>G (p.Thr1661=)
c.3143C>G
c.1130C>G
n.748C>G
c.5445C>G (p.Thr1815=)
c.5505C>G (p.Thr1835=)
c.5460C>G (p.Thr1820=)
c.5541C>G (p.Thr1847=)
c.5496C>G (p.Thr1832=)
c.5481C>G (p.Thr1827=)
9g.128618028C>TCA467303926SPTAN1c.5556C>T (p.Thr1852=)
c.5520C>T (p.Thr1840=)
c.4983C>T (p.Thr1661=)
c.3143C>T
c.1130C>T
n.748C>T
c.5445C>T (p.Thr1815=)
c.5505C>T (p.Thr1835=)
c.5460C>T (p.Thr1820=)
c.5541C>T (p.Thr1847=)
c.5496C>T (p.Thr1832=)
c.5481C>T (p.Thr1827=)
 dbSNP gnomAD v4
9g.128618029A=CA1880364335SPTAN1c.5557A= (p.Ile1853=)
c.5521A= (p.Ile1841=)
c.4984A= (p.Ile1662=)
c.3144A=
c.1131A=
n.749A=
c.5446A= (p.Ile1816=)
c.5506A= (p.Ile1836=)
c.5461A= (p.Ile1821=)
c.5542A= (p.Ile1848=)
c.5497A= (p.Ile1833=)
c.5482A= (p.Ile1828=)
9g.128618029A>CCA375076991SPTAN1c.5557A>C (p.Ile1853Leu)
c.5521A>C (p.Ile1841Leu)
c.4984A>C (p.Ile1662Leu)
c.3144A>C
c.1131A>C
n.749A>C
c.5446A>C (p.Ile1816Leu)
c.5506A>C (p.Ile1836Leu)
c.5461A>C (p.Ile1821Leu)
c.5542A>C (p.Ile1848Leu)
c.5497A>C (p.Ile1833Leu)
c.5482A>C (p.Ile1828Leu)
9g.128618029A>GCA5265492SPTAN1c.5557A>G (p.Ile1853Val)
c.5521A>G (p.Ile1841Val)
c.4984A>G (p.Ile1662Val)
c.3144A>G
c.1131A>G
n.749A>G
c.5446A>G (p.Ile1816Val)
c.5506A>G (p.Ile1836Val)
c.5461A>G (p.Ile1821Val)
c.5542A>G (p.Ile1848Val)
c.5497A>G (p.Ile1833Val)
c.5482A>G (p.Ile1828Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128618029A>TCA375076987SPTAN1c.5557A>T (p.Ile1853Phe)
c.5521A>T (p.Ile1841Phe)
c.4984A>T (p.Ile1662Phe)
c.3144A>T
c.1131A>T
n.749A>T
c.5446A>T (p.Ile1816Phe)
c.5506A>T (p.Ile1836Phe)
c.5461A>T (p.Ile1821Phe)
c.5542A>T (p.Ile1848Phe)
c.5497A>T (p.Ile1833Phe)
c.5482A>T (p.Ile1828Phe)
9g.128618030T>ACA375076994SPTAN1c.5558T>A (p.Ile1853Asn)
c.5522T>A (p.Ile1841Asn)
c.4985T>A (p.Ile1662Asn)
c.3145T>A
c.1132T>A
n.750T>A
c.5447T>A (p.Ile1816Asn)
c.5507T>A (p.Ile1836Asn)
c.5462T>A (p.Ile1821Asn)
c.5543T>A (p.Ile1848Asn)
c.5498T>A (p.Ile1833Asn)
c.5483T>A (p.Ile1828Asn)
9g.128618030T>CCA375076995SPTAN1c.5558T>C (p.Ile1853Thr)
c.5522T>C (p.Ile1841Thr)
c.4985T>C (p.Ile1662Thr)
c.3145T>C
c.1132T>C
n.750T>C
c.5447T>C (p.Ile1816Thr)
c.5507T>C (p.Ile1836Thr)
c.5462T>C (p.Ile1821Thr)
c.5543T>C (p.Ile1848Thr)
c.5498T>C (p.Ile1833Thr)
c.5483T>C (p.Ile1828Thr)
9g.128618030T>GCA375076996SPTAN1c.5558T>G (p.Ile1853Ser)
c.5522T>G (p.Ile1841Ser)
c.4985T>G (p.Ile1662Ser)
c.3145T>G
c.1132T>G
n.750T>G
c.5447T>G (p.Ile1816Ser)
c.5507T>G (p.Ile1836Ser)
c.5462T>G (p.Ile1821Ser)
c.5543T>G (p.Ile1848Ser)
c.5498T>G (p.Ile1833Ser)
c.5483T>G (p.Ile1828Ser)
9g.128618031C>ACA467303928SPTAN1c.5559C>A (p.Ile1853=)
c.5523C>A (p.Ile1841=)
c.4986C>A (p.Ile1662=)
c.3146C>A
c.1133C>A
n.751C>A
c.5448C>A (p.Ile1816=)
c.5508C>A (p.Ile1836=)
c.5463C>A (p.Ile1821=)
c.5544C>A (p.Ile1848=)
c.5499C>A (p.Ile1833=)
c.5484C>A (p.Ile1828=)
 gnomAD v4
9g.128618031C=CA1880364336SPTAN1c.5559C= (p.Ile1853=)
c.5523C= (p.Ile1841=)
c.4986C= (p.Ile1662=)
c.3146C=
c.1133C=
n.751C=
c.5448C= (p.Ile1816=)
c.5508C= (p.Ile1836=)
c.5463C= (p.Ile1821=)
c.5544C= (p.Ile1848=)
c.5499C= (p.Ile1833=)
c.5484C= (p.Ile1828=)
9g.128618031C>GCA375076997SPTAN1c.5559C>G (p.Ile1853Met)
c.5523C>G (p.Ile1841Met)
c.4986C>G (p.Ile1662Met)
c.3146C>G
c.1133C>G
n.751C>G
c.5448C>G (p.Ile1816Met)
c.5508C>G (p.Ile1836Met)
c.5463C>G (p.Ile1821Met)
c.5544C>G (p.Ile1848Met)
c.5499C>G (p.Ile1833Met)
c.5484C>G (p.Ile1828Met)
9g.128618031C>TCA295185SPTAN1c.5559C>T (p.Ile1853=)
c.5523C>T (p.Ile1841=)
c.4986C>T (p.Ile1662=)
c.3146C>T
c.1133C>T
n.751C>T
c.5448C>T (p.Ile1816=)
c.5508C>T (p.Ile1836=)
c.5463C>T (p.Ile1821=)
c.5544C>T (p.Ile1848=)
c.5499C>T (p.Ile1833=)
c.5484C>T (p.Ile1828=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128618032G>ACA5265493SPTAN1c.5560G>A (p.Gly1854Arg)
c.5524G>A (p.Gly1842Arg)
c.4987G>A (p.Gly1663Arg)
c.3147G>A
c.1134G>A
n.752G>A
c.5449G>A (p.Gly1817Arg)
c.5509G>A (p.Gly1837Arg)
c.5464G>A (p.Gly1822Arg)
c.5545G>A (p.Gly1849Arg)
c.5500G>A (p.Gly1834Arg)
c.5485G>A (p.Gly1829Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128618032G>CCA375076999SPTAN1c.5560G>C (p.Gly1854Arg)
c.5524G>C (p.Gly1842Arg)
c.4987G>C (p.Gly1663Arg)
c.3147G>C
c.1134G>C
n.752G>C
c.5449G>C (p.Gly1817Arg)
c.5509G>C (p.Gly1837Arg)
c.5464G>C (p.Gly1822Arg)
c.5545G>C (p.Gly1849Arg)
c.5500G>C (p.Gly1834Arg)
c.5485G>C (p.Gly1829Arg)
 dbSNP
9g.128618032G=CA1880364337SPTAN1c.5560G= (p.Gly1854=)
c.5524G= (p.Gly1842=)
c.4987G= (p.Gly1663=)
c.3147G=
c.1134G=
n.752G=
c.5449G= (p.Gly1817=)
c.5509G= (p.Gly1837=)
c.5464G= (p.Gly1822=)
c.5545G= (p.Gly1849=)
c.5500G= (p.Gly1834=)
c.5485G= (p.Gly1829=)
9g.128618032G>TCA375076998SPTAN1c.5560G>T (p.Gly1854Trp)
c.5524G>T (p.Gly1842Trp)
c.4987G>T (p.Gly1663Trp)
c.3147G>T
c.1134G>T
n.752G>T
c.5449G>T (p.Gly1817Trp)
c.5509G>T (p.Gly1837Trp)
c.5464G>T (p.Gly1822Trp)
c.5545G>T (p.Gly1849Trp)
c.5500G>T (p.Gly1834Trp)
c.5485G>T (p.Gly1829Trp)
 dbSNP gnomAD v2
9g.128618033G>ACA375077002SPTAN1c.5561G>A (p.Gly1854Glu)
c.5525G>A (p.Gly1842Glu)
c.4988G>A (p.Gly1663Glu)
c.3148G>A
c.1135G>A
n.753G>A
c.5450G>A (p.Gly1817Glu)
c.5510G>A (p.Gly1837Glu)
c.5465G>A (p.Gly1822Glu)
c.5546G>A (p.Gly1849Glu)
c.5501G>A (p.Gly1834Glu)
c.5486G>A (p.Gly1829Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128618033G>CCA375077005SPTAN1c.5561G>C (p.Gly1854Ala)
c.5525G>C (p.Gly1842Ala)
c.4988G>C (p.Gly1663Ala)
c.3148G>C
c.1135G>C
n.753G>C
c.5450G>C (p.Gly1817Ala)
c.5510G>C (p.Gly1837Ala)
c.5465G>C (p.Gly1822Ala)
c.5546G>C (p.Gly1849Ala)
c.5501G>C (p.Gly1834Ala)
c.5486G>C (p.Gly1829Ala)
9g.128618033G=CA1880364338SPTAN1c.5561G= (p.Gly1854=)
c.5525G= (p.Gly1842=)
c.4988G= (p.Gly1663=)
c.3148G=
c.1135G=
n.753G=
c.5450G= (p.Gly1817=)
c.5510G= (p.Gly1837=)
c.5465G= (p.Gly1822=)
c.5546G= (p.Gly1849=)
c.5501G= (p.Gly1834=)
c.5486G= (p.Gly1829=)
9g.128618033G>TCA375077008SPTAN1c.5561G>T (p.Gly1854Val)
c.5525G>T (p.Gly1842Val)
c.4988G>T (p.Gly1663Val)
c.3148G>T
c.1135G>T
n.753G>T
c.5450G>T (p.Gly1817Val)
c.5510G>T (p.Gly1837Val)
c.5465G>T (p.Gly1822Val)
c.5546G>T (p.Gly1849Val)
c.5501G>T (p.Gly1834Val)
c.5486G>T (p.Gly1829Val)
 gnomAD v4
9g.128618034G>ACA467303932SPTAN1c.5562G>A (p.Gly1854=)
c.5526G>A (p.Gly1842=)
c.4989G>A (p.Gly1663=)
c.3149G>A
c.1136G>A
n.754G>A
c.5451G>A (p.Gly1817=)
c.5511G>A (p.Gly1837=)
c.5466G>A (p.Gly1822=)
c.5547G>A (p.Gly1849=)
c.5502G>A (p.Gly1834=)
c.5487G>A (p.Gly1829=)
 dbSNP
9g.128618034G>CCA467303933SPTAN1c.5562G>C (p.Gly1854=)
c.5526G>C (p.Gly1842=)
c.4989G>C (p.Gly1663=)
c.3149G>C
c.1136G>C
n.754G>C
c.5451G>C (p.Gly1817=)
c.5511G>C (p.Gly1837=)
c.5466G>C (p.Gly1822=)
c.5547G>C (p.Gly1849=)
c.5502G>C (p.Gly1834=)
c.5487G>C (p.Gly1829=)
9g.128618034G=CA1880364339SPTAN1c.5562G= (p.Gly1854=)
c.5526G= (p.Gly1842=)
c.4989G= (p.Gly1663=)
c.3149G=
c.1136G=
n.754G=
c.5451G= (p.Gly1817=)
c.5511G= (p.Gly1837=)
c.5466G= (p.Gly1822=)
c.5547G= (p.Gly1849=)
c.5502G= (p.Gly1834=)
c.5487G= (p.Gly1829=)
9g.128618034G>TCA467303935SPTAN1c.5562G>T (p.Gly1854=)
c.5526G>T (p.Gly1842=)
c.4989G>T (p.Gly1663=)
c.3149G>T
c.1136G>T
n.754G>T
c.5451G>T (p.Gly1817=)
c.5511G>T (p.Gly1837=)
c.5466G>T (p.Gly1822=)
c.5547G>T (p.Gly1849=)
c.5502G>T (p.Gly1834=)
c.5487G>T (p.Gly1829=)
9g.128618035A>CCA375077017SPTAN1c.5563A>C (p.Lys1855Gln)
c.5527A>C (p.Lys1843Gln)
c.4990A>C (p.Lys1664Gln)
c.3150A>C
c.1137A>C
n.755A>C
c.5452A>C (p.Lys1818Gln)
c.5512A>C (p.Lys1838Gln)
c.5467A>C (p.Lys1823Gln)
c.5548A>C (p.Lys1850Gln)
c.5503A>C (p.Lys1835Gln)
c.5488A>C (p.Lys1830Gln)
9g.128618035A>GCA375077021SPTAN1c.5563A>G (p.Lys1855Glu)
c.5527A>G (p.Lys1843Glu)
c.4990A>G (p.Lys1664Glu)
c.3150A>G
c.1137A>G
n.755A>G
c.5452A>G (p.Lys1818Glu)
c.5512A>G (p.Lys1838Glu)
c.5467A>G (p.Lys1823Glu)
c.5548A>G (p.Lys1850Glu)
c.5503A>G (p.Lys1835Glu)
c.5488A>G (p.Lys1830Glu)
 ClinVar dbSNP
9g.128618035A>TCA375077029SPTAN1c.5563A>T (p.Lys1855Ter)
c.5527A>T (p.Lys1843Ter)
c.4990A>T (p.Lys1664Ter)
c.3150A>T
c.1137A>T
n.755A>T
c.5452A>T (p.Lys1818Ter)
c.5512A>T (p.Lys1838Ter)
c.5467A>T (p.Lys1823Ter)
c.5548A>T (p.Lys1850Ter)
c.5503A>T (p.Lys1835Ter)
c.5488A>T (p.Lys1830Ter)
9g.128618036A>CCA375077032SPTAN1c.5564A>C (p.Lys1855Thr)
c.5528A>C (p.Lys1843Thr)
c.4991A>C (p.Lys1664Thr)
c.3151A>C
c.1138A>C
n.756A>C
c.5453A>C (p.Lys1818Thr)
c.5513A>C (p.Lys1838Thr)
c.5468A>C (p.Lys1823Thr)
c.5549A>C (p.Lys1850Thr)
c.5504A>C (p.Lys1835Thr)
c.5489A>C (p.Lys1830Thr)
9g.128618036A>GCA375077035SPTAN1c.5564A>G (p.Lys1855Arg)
c.5528A>G (p.Lys1843Arg)
c.4991A>G (p.Lys1664Arg)
c.3151A>G
c.1138A>G
n.756A>G
c.5453A>G (p.Lys1818Arg)
c.5513A>G (p.Lys1838Arg)
c.5468A>G (p.Lys1823Arg)
c.5549A>G (p.Lys1850Arg)
c.5504A>G (p.Lys1835Arg)
c.5489A>G (p.Lys1830Arg)
9g.128618036A>TCA375077037SPTAN1c.5564A>T (p.Lys1855Ile)
c.5528A>T (p.Lys1843Ile)
c.4991A>T (p.Lys1664Ile)
c.3151A>T
c.1138A>T
n.756A>T
c.5453A>T (p.Lys1818Ile)
c.5513A>T (p.Lys1838Ile)
c.5468A>T (p.Lys1823Ile)
c.5549A>T (p.Lys1850Ile)
c.5504A>T (p.Lys1835Ile)
c.5489A>T (p.Lys1830Ile)
9g.128618037A=CA1880364340SPTAN1c.5565A= (p.Lys1855=)
c.5529A= (p.Lys1843=)
c.4992A= (p.Lys1664=)
c.3152A=
c.1139A=
n.757A=
c.5454A= (p.Lys1818=)
c.5514A= (p.Lys1838=)
c.5469A= (p.Lys1823=)
c.5550A= (p.Lys1850=)
c.5505A= (p.Lys1835=)
c.5490A= (p.Lys1830=)
9g.128618037A>CCA375077040SPTAN1c.5565A>C (p.Lys1855Asn)
c.5529A>C (p.Lys1843Asn)
c.4992A>C (p.Lys1664Asn)
c.3152A>C
c.1139A>C
n.757A>C
c.5454A>C (p.Lys1818Asn)
c.5514A>C (p.Lys1838Asn)
c.5469A>C (p.Lys1823Asn)
c.5550A>C (p.Lys1850Asn)
c.5505A>C (p.Lys1835Asn)
c.5490A>C (p.Lys1830Asn)
9g.128618037A>GCA5265494SPTAN1c.5565A>G (p.Lys1855=)
c.5529A>G (p.Lys1843=)
c.4992A>G (p.Lys1664=)
c.3152A>G
c.1139A>G
n.757A>G
c.5454A>G (p.Lys1818=)
c.5514A>G (p.Lys1838=)
c.5469A>G (p.Lys1823=)
c.5550A>G (p.Lys1850=)
c.5505A>G (p.Lys1835=)
c.5490A>G (p.Lys1830=)
 ClinVar dbSNP ExAC gnomAD v4
9g.128618037A>TCA375077043SPTAN1c.5565A>T (p.Lys1855Asn)
c.5529A>T (p.Lys1843Asn)
c.4992A>T (p.Lys1664Asn)
c.3152A>T
c.1139A>T
n.757A>T
c.5454A>T (p.Lys1818Asn)
c.5514A>T (p.Lys1838Asn)
c.5469A>T (p.Lys1823Asn)
c.5550A>T (p.Lys1850Asn)
c.5505A>T (p.Lys1835Asn)
c.5490A>T (p.Lys1830Asn)
9g.128618039_128618040delCA2739265105SPTAN1c.5567_5568del (p.Glu1856GlyfsTer?)
c.5531_5532del (p.Glu1844GlyfsTer?)
c.4994_4995del (p.Glu1665GlyfsTer?)
c.3154_3155del
c.1141_1142del
n.759_760del
c.5456_5457del (p.Glu1819GlyfsTer?)
c.5516_5517del (p.Glu1839GlyfsTer?)
c.5471_5472del (p.Glu1824GlyfsTer?)
c.5552_5553del (p.Glu1851GlyfsTer?)
c.5507_5508del (p.Glu1836GlyfsTer?)
c.5492_5493del (p.Glu1831GlyfsTer?)
 ClinVar
9g.128618038G>ACA375077049SPTAN1c.5566G>A (p.Glu1856Lys)
c.5530G>A (p.Glu1844Lys)
c.4993G>A (p.Glu1665Lys)
c.3153G>A
c.1140G>A
n.758G>A
c.5455G>A (p.Glu1819Lys)
c.5515G>A (p.Glu1839Lys)
c.5470G>A (p.Glu1824Lys)
c.5551G>A (p.Glu1851Lys)
c.5506G>A (p.Glu1836Lys)
c.5491G>A (p.Glu1831Lys)
 gnomAD v4
9g.128618038G>CCA5265495SPTAN1c.5566G>C (p.Glu1856Gln)
c.5530G>C (p.Glu1844Gln)
c.4993G>C (p.Glu1665Gln)
c.3153G>C
c.1140G>C
n.758G>C
c.5455G>C (p.Glu1819Gln)
c.5515G>C (p.Glu1839Gln)
c.5470G>C (p.Glu1824Gln)
c.5551G>C (p.Glu1851Gln)
c.5506G>C (p.Glu1836Gln)
c.5491G>C (p.Glu1831Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128618038G=CA1880364341SPTAN1c.5566G= (p.Glu1856=)
c.5530G= (p.Glu1844=)
c.4993G= (p.Glu1665=)
c.3153G=
c.1140G=
n.758G=
c.5455G= (p.Glu1819=)
c.5515G= (p.Glu1839=)
c.5470G= (p.Glu1824=)
c.5551G= (p.Glu1851=)
c.5506G= (p.Glu1836=)
c.5491G= (p.Glu1831=)
9g.128618038G>TCA375077052SPTAN1c.5566G>T (p.Glu1856Ter)
c.5530G>T (p.Glu1844Ter)
c.4993G>T (p.Glu1665Ter)
c.3153G>T
c.1140G>T
n.758G>T
c.5455G>T (p.Glu1819Ter)
c.5515G>T (p.Glu1839Ter)
c.5470G>T (p.Glu1824Ter)
c.5551G>T (p.Glu1851Ter)
c.5506G>T (p.Glu1836Ter)
c.5491G>T (p.Glu1831Ter)
9g.128618039A>CCA375077055SPTAN1c.5567A>C (p.Glu1856Ala)
c.5531A>C (p.Glu1844Ala)
c.4994A>C (p.Glu1665Ala)
c.3154A>C
c.1141A>C
n.759A>C
c.5456A>C (p.Glu1819Ala)
c.5516A>C (p.Glu1839Ala)
c.5471A>C (p.Glu1824Ala)
c.5552A>C (p.Glu1851Ala)
c.5507A>C (p.Glu1836Ala)
c.5492A>C (p.Glu1831Ala)
9g.128618039A>GCA375077058SPTAN1c.5567A>G (p.Glu1856Gly)
c.5531A>G (p.Glu1844Gly)
c.4994A>G (p.Glu1665Gly)
c.3154A>G
c.1141A>G
n.759A>G
c.5456A>G (p.Glu1819Gly)
c.5516A>G (p.Glu1839Gly)
c.5471A>G (p.Glu1824Gly)
c.5552A>G (p.Glu1851Gly)
c.5507A>G (p.Glu1836Gly)
c.5492A>G (p.Glu1831Gly)
9g.128618039A>TCA375077062SPTAN1c.5567A>T (p.Glu1856Val)
c.5531A>T (p.Glu1844Val)
c.4994A>T (p.Glu1665Val)
c.3154A>T
c.1141A>T
n.759A>T
c.5456A>T (p.Glu1819Val)
c.5516A>T (p.Glu1839Val)
c.5471A>T (p.Glu1824Val)
c.5552A>T (p.Glu1851Val)
c.5507A>T (p.Glu1836Val)
c.5492A>T (p.Glu1831Val)
9g.128618040G>ACA467303939SPTAN1c.5568G>A (p.Glu1856=)
c.5532G>A (p.Glu1844=)
c.4995G>A (p.Glu1665=)
c.3155G>A
c.1142G>A
n.760G>A
c.5457G>A (p.Glu1819=)
c.5517G>A (p.Glu1839=)
c.5472G>A (p.Glu1824=)
c.5553G>A (p.Glu1851=)
c.5508G>A (p.Glu1836=)
c.5493G>A (p.Glu1831=)
9g.128618040G>CCA375077067SPTAN1c.5568G>C (p.Glu1856Asp)
c.5532G>C (p.Glu1844Asp)
c.4995G>C (p.Glu1665Asp)
c.3155G>C
c.1142G>C
n.760G>C
c.5457G>C (p.Glu1819Asp)
c.5517G>C (p.Glu1839Asp)
c.5472G>C (p.Glu1824Asp)
c.5553G>C (p.Glu1851Asp)
c.5508G>C (p.Glu1836Asp)
c.5493G>C (p.Glu1831Asp)
9g.128618040G>TCA375077069SPTAN1c.5568G>T (p.Glu1856Asp)
c.5532G>T (p.Glu1844Asp)
c.4995G>T (p.Glu1665Asp)
c.3155G>T
c.1142G>T
n.760G>T
c.5457G>T (p.Glu1819Asp)
c.5517G>T (p.Glu1839Asp)
c.5472G>T (p.Glu1824Asp)
c.5553G>T (p.Glu1851Asp)
c.5508G>T (p.Glu1836Asp)
c.5493G>T (p.Glu1831Asp)
9g.128618041G>ACA375077074SPTAN1c.5569G>A (p.Glu1857Lys)
c.5533G>A (p.Glu1845Lys)
c.4996G>A (p.Glu1666Lys)
c.3156G>A
c.1143G>A
n.761G>A
c.5458G>A (p.Glu1820Lys)
c.5518G>A (p.Glu1840Lys)
c.5473G>A (p.Glu1825Lys)
c.5554G>A (p.Glu1852Lys)
c.5509G>A (p.Glu1837Lys)
c.5494G>A (p.Glu1832Lys)
9g.128618041G>CCA375077077SPTAN1c.5569G>C (p.Glu1857Gln)
c.5533G>C (p.Glu1845Gln)
c.4996G>C (p.Glu1666Gln)
c.3156G>C
c.1143G>C
n.761G>C
c.5458G>C (p.Glu1820Gln)
c.5518G>C (p.Glu1840Gln)
c.5473G>C (p.Glu1825Gln)
c.5554G>C (p.Glu1852Gln)
c.5509G>C (p.Glu1837Gln)
c.5494G>C (p.Glu1832Gln)
 dbSNP gnomAD v2
9g.128618041G=CA1880364342SPTAN1c.5569G= (p.Glu1857=)
c.5533G= (p.Glu1845=)
c.4996G= (p.Glu1666=)
c.3156G=
c.1143G=
n.761G=
c.5458G= (p.Glu1820=)
c.5518G= (p.Glu1840=)
c.5473G= (p.Glu1825=)
c.5554G= (p.Glu1852=)
c.5509G= (p.Glu1837=)
c.5494G= (p.Glu1832=)
9g.128618041G>TCA375077086SPTAN1c.5569G>T (p.Glu1857Ter)
c.5533G>T (p.Glu1845Ter)
c.4996G>T (p.Glu1666Ter)
c.3156G>T
c.1143G>T
n.761G>T
c.5458G>T (p.Glu1820Ter)
c.5518G>T (p.Glu1840Ter)
c.5473G>T (p.Glu1825Ter)
c.5554G>T (p.Glu1852Ter)
c.5509G>T (p.Glu1837Ter)
c.5494G>T (p.Glu1832Ter)
 gnomAD v4
9g.128618042A>CCA375077089SPTAN1c.5570A>C (p.Glu1857Ala)
c.5534A>C (p.Glu1845Ala)
c.4997A>C (p.Glu1666Ala)
c.3157A>C
c.1144A>C
n.762A>C
c.5459A>C (p.Glu1820Ala)
c.5519A>C (p.Glu1840Ala)
c.5474A>C (p.Glu1825Ala)
c.5555A>C (p.Glu1852Ala)
c.5510A>C (p.Glu1837Ala)
c.5495A>C (p.Glu1832Ala)
9g.128618042A>GCA375077092SPTAN1c.5570A>G (p.Glu1857Gly)
c.5534A>G (p.Glu1845Gly)
c.4997A>G (p.Glu1666Gly)
c.3157A>G
c.1144A>G
n.762A>G
c.5459A>G (p.Glu1820Gly)
c.5519A>G (p.Glu1840Gly)
c.5474A>G (p.Glu1825Gly)
c.5555A>G (p.Glu1852Gly)
c.5510A>G (p.Glu1837Gly)
c.5495A>G (p.Glu1832Gly)
9g.128618042A>TCA375077093SPTAN1c.5570A>T (p.Glu1857Val)
c.5534A>T (p.Glu1845Val)
c.4997A>T (p.Glu1666Val)
c.3157A>T
c.1144A>T
n.762A>T
c.5459A>T (p.Glu1820Val)
c.5519A>T (p.Glu1840Val)
c.5474A>T (p.Glu1825Val)
c.5555A>T (p.Glu1852Val)
c.5510A>T (p.Glu1837Val)
c.5495A>T (p.Glu1832Val)
9g.128618043G>ACA467303941SPTAN1c.5571G>A (p.Glu1857=)
c.5535G>A (p.Glu1845=)
c.4998G>A (p.Glu1666=)
c.3158G>A
c.1145G>A
n.763G>A
c.5460G>A (p.Glu1820=)
c.5520G>A (p.Glu1840=)
c.5475G>A (p.Glu1825=)
c.5556G>A (p.Glu1852=)
c.5511G>A (p.Glu1837=)
c.5496G>A (p.Glu1832=)
9g.128618043G>CCA375077094SPTAN1c.5571G>C (p.Glu1857Asp)
c.5535G>C (p.Glu1845Asp)
c.4998G>C (p.Glu1666Asp)
c.3158G>C
c.1145G>C
n.763G>C
c.5460G>C (p.Glu1820Asp)
c.5520G>C (p.Glu1840Asp)
c.5475G>C (p.Glu1825Asp)
c.5556G>C (p.Glu1852Asp)
c.5511G>C (p.Glu1837Asp)
c.5496G>C (p.Glu1832Asp)
9g.128618043G>TCA375077095SPTAN1c.5571G>T (p.Glu1857Asp)
c.5535G>T (p.Glu1845Asp)
c.4998G>T (p.Glu1666Asp)
c.3158G>T
c.1145G>T
n.763G>T
c.5460G>T (p.Glu1820Asp)
c.5520G>T (p.Glu1840Asp)
c.5475G>T (p.Glu1825Asp)
c.5556G>T (p.Glu1852Asp)
c.5511G>T (p.Glu1837Asp)
c.5496G>T (p.Glu1832Asp)
 gnomAD v4
9g.128618044A>CCA375077103SPTAN1c.5572A>C (p.Ile1858Leu)
c.5536A>C (p.Ile1846Leu)
c.4999A>C (p.Ile1667Leu)
c.3159A>C
c.1146A>C
n.764A>C
c.5461A>C (p.Ile1821Leu)
c.5521A>C (p.Ile1841Leu)
c.5476A>C (p.Ile1826Leu)
c.5557A>C (p.Ile1853Leu)
c.5512A>C (p.Ile1838Leu)
c.5497A>C (p.Ile1833Leu)
 gnomAD v4
9g.128618044A>GCA375077098SPTAN1c.5572A>G (p.Ile1858Val)
c.5536A>G (p.Ile1846Val)
c.4999A>G (p.Ile1667Val)
c.3159A>G
c.1146A>G
n.764A>G
c.5461A>G (p.Ile1821Val)
c.5521A>G (p.Ile1841Val)
c.5476A>G (p.Ile1826Val)
c.5557A>G (p.Ile1853Val)
c.5512A>G (p.Ile1838Val)
c.5497A>G (p.Ile1833Val)
9g.128618044A>TCA375077099SPTAN1c.5572A>T (p.Ile1858Phe)
c.5536A>T (p.Ile1846Phe)
c.4999A>T (p.Ile1667Phe)
c.3159A>T
c.1146A>T
n.764A>T
c.5461A>T (p.Ile1821Phe)
c.5521A>T (p.Ile1841Phe)
c.5476A>T (p.Ile1826Phe)
c.5557A>T (p.Ile1853Phe)
c.5512A>T (p.Ile1838Phe)
c.5497A>T (p.Ile1833Phe)
 gnomAD v4
9g.128618045T>ACA375077107SPTAN1c.5573T>A (p.Ile1858Asn)
c.5537T>A (p.Ile1846Asn)
c.5000T>A (p.Ile1667Asn)
c.3160T>A
c.1147T>A
n.765T>A
c.5462T>A (p.Ile1821Asn)
c.5522T>A (p.Ile1841Asn)
c.5477T>A (p.Ile1826Asn)
c.5558T>A (p.Ile1853Asn)
c.5513T>A (p.Ile1838Asn)
c.5498T>A (p.Ile1833Asn)
9g.128618045T>CCA375077108SPTAN1c.5573T>C (p.Ile1858Thr)
c.5537T>C (p.Ile1846Thr)
c.5000T>C (p.Ile1667Thr)
c.3160T>C
c.1147T>C
n.765T>C
c.5462T>C (p.Ile1821Thr)
c.5522T>C (p.Ile1841Thr)
c.5477T>C (p.Ile1826Thr)
c.5558T>C (p.Ile1853Thr)
c.5513T>C (p.Ile1838Thr)
c.5498T>C (p.Ile1833Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.128618045T>GCA375077109SPTAN1c.5573T>G (p.Ile1858Ser)
c.5537T>G (p.Ile1846Ser)
c.5000T>G (p.Ile1667Ser)
c.3160T>G
c.1147T>G
n.765T>G
c.5462T>G (p.Ile1821Ser)
c.5522T>G (p.Ile1841Ser)
c.5477T>G (p.Ile1826Ser)
c.5558T>G (p.Ile1853Ser)
c.5513T>G (p.Ile1838Ser)
c.5498T>G (p.Ile1833Ser)
9g.128618045T=CA1880364343SPTAN1c.5573T= (p.Ile1858=)
c.5537T= (p.Ile1846=)
c.5000T= (p.Ile1667=)
c.3160T=
c.1147T=
n.765T=
c.5462T= (p.Ile1821=)
c.5522T= (p.Ile1841=)
c.5477T= (p.Ile1826=)
c.5558T= (p.Ile1853=)
c.5513T= (p.Ile1838=)
c.5498T= (p.Ile1833=)
9g.128618046C>ACA467303943SPTAN1c.5574C>A (p.Ile1858=)
c.5538C>A (p.Ile1846=)
c.5001C>A (p.Ile1667=)
c.3161C>A
c.1148C>A
n.766C>A
c.5463C>A (p.Ile1821=)
c.5523C>A (p.Ile1841=)
c.5478C>A (p.Ile1826=)
c.5559C>A (p.Ile1853=)
c.5514C>A (p.Ile1838=)
c.5499C>A (p.Ile1833=)
 gnomAD v4
9g.128618046C>GCA375077110SPTAN1c.5574C>G (p.Ile1858Met)
c.5538C>G (p.Ile1846Met)
c.5001C>G (p.Ile1667Met)
c.3161C>G
c.1148C>G
n.766C>G
c.5463C>G (p.Ile1821Met)
c.5523C>G (p.Ile1841Met)
c.5478C>G (p.Ile1826Met)
c.5559C>G (p.Ile1853Met)
c.5514C>G (p.Ile1838Met)
c.5499C>G (p.Ile1833Met)
9g.128618046C>TCA467303945SPTAN1c.5574C>T (p.Ile1858=)
c.5538C>T (p.Ile1846=)
c.5001C>T (p.Ile1667=)
c.3161C>T
c.1148C>T
n.766C>T
c.5463C>T (p.Ile1821=)
c.5523C>T (p.Ile1841=)
c.5478C>T (p.Ile1826=)
c.5559C>T (p.Ile1853=)
c.5514C>T (p.Ile1838=)
c.5499C>T (p.Ile1833=)
9g.128618047C>ACA375077112SPTAN1c.5575C>A (p.Gln1859Lys)
c.5539C>A (p.Gln1847Lys)
c.5002C>A (p.Gln1668Lys)
c.3162C>A
c.1149C>A
n.767C>A
c.5464C>A (p.Gln1822Lys)
c.5524C>A (p.Gln1842Lys)
c.5479C>A (p.Gln1827Lys)
c.5560C>A (p.Gln1854Lys)
c.5515C>A (p.Gln1839Lys)
c.5500C>A (p.Gln1834Lys)
9g.128618047C>GCA375077113SPTAN1c.5575C>G (p.Gln1859Glu)
c.5539C>G (p.Gln1847Glu)
c.5002C>G (p.Gln1668Glu)
c.3162C>G
c.1149C>G
n.767C>G
c.5464C>G (p.Gln1822Glu)
c.5524C>G (p.Gln1842Glu)
c.5479C>G (p.Gln1827Glu)
c.5560C>G (p.Gln1854Glu)
c.5515C>G (p.Gln1839Glu)
c.5500C>G (p.Gln1834Glu)
9g.128618047C>TCA375077115SPTAN1c.5575C>T (p.Gln1859Ter)
c.5539C>T (p.Gln1847Ter)
c.5002C>T (p.Gln1668Ter)
c.3162C>T
c.1149C>T
n.767C>T
c.5464C>T (p.Gln1822Ter)
c.5524C>T (p.Gln1842Ter)
c.5479C>T (p.Gln1827Ter)
c.5560C>T (p.Gln1854Ter)
c.5515C>T (p.Gln1839Ter)
c.5500C>T (p.Gln1834Ter)
9g.128618048A>CCA375077117SPTAN1c.5576A>C (p.Gln1859Pro)
c.5540A>C (p.Gln1847Pro)
c.5003A>C (p.Gln1668Pro)
c.3163A>C
c.1150A>C
n.768A>C
c.5465A>C (p.Gln1822Pro)
c.5525A>C (p.Gln1842Pro)
c.5480A>C (p.Gln1827Pro)
c.5561A>C (p.Gln1854Pro)
c.5516A>C (p.Gln1839Pro)
c.5501A>C (p.Gln1834Pro)
9g.128618048A>GCA375077119SPTAN1c.5576A>G (p.Gln1859Arg)
c.5540A>G (p.Gln1847Arg)
c.5003A>G (p.Gln1668Arg)
c.3163A>G
c.1150A>G
n.768A>G
c.5465A>G (p.Gln1822Arg)
c.5525A>G (p.Gln1842Arg)
c.5480A>G (p.Gln1827Arg)
c.5561A>G (p.Gln1854Arg)
c.5516A>G (p.Gln1839Arg)
c.5501A>G (p.Gln1834Arg)
9g.128618048A>TCA375077121SPTAN1c.5576A>T (p.Gln1859Leu)
c.5540A>T (p.Gln1847Leu)
c.5003A>T (p.Gln1668Leu)
c.3163A>T
c.1150A>T
n.768A>T
c.5465A>T (p.Gln1822Leu)
c.5525A>T (p.Gln1842Leu)
c.5480A>T (p.Gln1827Leu)
c.5561A>T (p.Gln1854Leu)
c.5516A>T (p.Gln1839Leu)
c.5501A>T (p.Gln1834Leu)
9g.128618049G>ACA467303946SPTAN1c.5577G>A (p.Gln1859=)
c.5541G>A (p.Gln1847=)
c.5004G>A (p.Gln1668=)
c.3164G>A
c.1151G>A
n.769G>A
c.5466G>A (p.Gln1822=)
c.5526G>A (p.Gln1842=)
c.5481G>A (p.Gln1827=)
c.5562G>A (p.Gln1854=)
c.5517G>A (p.Gln1839=)
c.5502G>A (p.Gln1834=)
9g.128618049G>CCA375077124SPTAN1c.5577G>C (p.Gln1859His)
c.5541G>C (p.Gln1847His)
c.5004G>C (p.Gln1668His)
c.3164G>C
c.1151G>C
n.769G>C
c.5466G>C (p.Gln1822His)
c.5526G>C (p.Gln1842His)
c.5481G>C (p.Gln1827His)
c.5562G>C (p.Gln1854His)
c.5517G>C (p.Gln1839His)
c.5502G>C (p.Gln1834His)
9g.128618049G>TCA375077126SPTAN1c.5577G>T (p.Gln1859His)
c.5541G>T (p.Gln1847His)
c.5004G>T (p.Gln1668His)
c.3164G>T
c.1151G>T
n.769G>T
c.5466G>T (p.Gln1822His)
c.5526G>T (p.Gln1842His)
c.5481G>T (p.Gln1827His)
c.5562G>T (p.Gln1854His)
c.5517G>T (p.Gln1839His)
c.5502G>T (p.Gln1834His)
 COSMIC COSMIC
9g.128618050C>ACA375077131SPTAN1c.5578C>A (p.Gln1860Lys)
c.5542C>A (p.Gln1848Lys)
c.5005C>A (p.Gln1669Lys)
c.3165C>A
c.1152C>A
n.770C>A
c.5467C>A (p.Gln1823Lys)
c.5527C>A (p.Gln1843Lys)
c.5482C>A (p.Gln1828Lys)
c.5563C>A (p.Gln1855Lys)
c.5518C>A (p.Gln1840Lys)
c.5503C>A (p.Gln1835Lys)
9g.128618050C>GCA375077134SPTAN1c.5578C>G (p.Gln1860Glu)
c.5542C>G (p.Gln1848Glu)
c.5005C>G (p.Gln1669Glu)
c.3165C>G
c.1152C>G
n.770C>G
c.5467C>G (p.Gln1823Glu)
c.5527C>G (p.Gln1843Glu)
c.5482C>G (p.Gln1828Glu)
c.5563C>G (p.Gln1855Glu)
c.5518C>G (p.Gln1840Glu)
c.5503C>G (p.Gln1835Glu)
9g.128618050C>TCA375077128SPTAN1c.5578C>T (p.Gln1860Ter)
c.5542C>T (p.Gln1848Ter)
c.5005C>T (p.Gln1669Ter)
c.3165C>T
c.1152C>T
n.770C>T
c.5467C>T (p.Gln1823Ter)
c.5527C>T (p.Gln1843Ter)
c.5482C>T (p.Gln1828Ter)
c.5563C>T (p.Gln1855Ter)
c.5518C>T (p.Gln1840Ter)
c.5503C>T (p.Gln1835Ter)
9g.128618051A=CA1880364344SPTAN1c.5579A= (p.Gln1860=)
c.5543A= (p.Gln1848=)
c.5006A= (p.Gln1669=)
c.3166A=
c.1153A=
n.771A=
c.5468A= (p.Gln1823=)
c.5528A= (p.Gln1843=)
c.5483A= (p.Gln1828=)
c.5564A= (p.Gln1855=)
c.5519A= (p.Gln1840=)
c.5504A= (p.Gln1835=)
9g.128618051A>CCA375077136SPTAN1c.5579A>C (p.Gln1860Pro)
c.5543A>C (p.Gln1848Pro)
c.5006A>C (p.Gln1669Pro)
c.3166A>C
c.1153A>C
n.771A>C
c.5468A>C (p.Gln1823Pro)
c.5528A>C (p.Gln1843Pro)
c.5483A>C (p.Gln1828Pro)
c.5564A>C (p.Gln1855Pro)
c.5519A>C (p.Gln1840Pro)
c.5504A>C (p.Gln1835Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.128618051A>GCA375077138SPTAN1c.5579A>G (p.Gln1860Arg)
c.5543A>G (p.Gln1848Arg)
c.5006A>G (p.Gln1669Arg)
c.3166A>G
c.1153A>G
n.771A>G
c.5468A>G (p.Gln1823Arg)
c.5528A>G (p.Gln1843Arg)
c.5483A>G (p.Gln1828Arg)
c.5564A>G (p.Gln1855Arg)
c.5519A>G (p.Gln1840Arg)
c.5504A>G (p.Gln1835Arg)
9g.128618051A>TCA375077142SPTAN1c.5579A>T (p.Gln1860Leu)
c.5543A>T (p.Gln1848Leu)
c.5006A>T (p.Gln1669Leu)
c.3166A>T
c.1153A>T
n.771A>T
c.5468A>T (p.Gln1823Leu)
c.5528A>T (p.Gln1843Leu)
c.5483A>T (p.Gln1828Leu)
c.5564A>T (p.Gln1855Leu)
c.5519A>T (p.Gln1840Leu)
c.5504A>T (p.Gln1835Leu)
9g.128618052G>ACA5265496SPTAN1c.5580G>A (p.Gln1860=)
c.5544G>A (p.Gln1848=)
c.5007G>A (p.Gln1669=)
c.3167G>A
c.1154G>A
n.772G>A
c.5469G>A (p.Gln1823=)
c.5529G>A (p.Gln1843=)
c.5484G>A (p.Gln1828=)
c.5565G>A (p.Gln1855=)
c.5520G>A (p.Gln1840=)
c.5505G>A (p.Gln1835=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128618052G>CCA375077145SPTAN1c.5580G>C (p.Gln1860His)
c.5544G>C (p.Gln1848His)
c.5007G>C (p.Gln1669His)
c.3167G>C
c.1154G>C
n.772G>C
c.5469G>C (p.Gln1823His)
c.5529G>C (p.Gln1843His)
c.5484G>C (p.Gln1828His)
c.5565G>C (p.Gln1855His)
c.5520G>C (p.Gln1840His)
c.5505G>C (p.Gln1835His)
9g.128618052G=CA1880364345SPTAN1c.5580G= (p.Gln1860=)
c.5544G= (p.Gln1848=)
c.5007G= (p.Gln1669=)
c.3167G=
c.1154G=
n.772G=
c.5469G= (p.Gln1823=)
c.5529G= (p.Gln1843=)
c.5484G= (p.Gln1828=)
c.5565G= (p.Gln1855=)
c.5520G= (p.Gln1840=)
c.5505G= (p.Gln1835=)
9g.128618052G>TCA375077148SPTAN1c.5580G>T (p.Gln1860His)
c.5544G>T (p.Gln1848His)
c.5007G>T (p.Gln1669His)
c.3167G>T
c.1154G>T
n.772G>T
c.5469G>T (p.Gln1823His)
c.5529G>T (p.Gln1843His)
c.5484G>T (p.Gln1828His)
c.5565G>T (p.Gln1855His)
c.5520G>T (p.Gln1840His)
c.5505G>T (p.Gln1835His)

Number of alleles fetched